Lateral radiographs obtained with the patient contracting his or her hamstring can reveal abnormal posterior tibial translation. Because of its intra-articular location, a substantial effusion and decreased range of motion often accompany the injury and, unless a meniscal tear is present, tenderness to palpation does not. However, ligamentous examination within the first few days after injury may be limited by patient guarding. To facilitate an accurate assessment, the resting position of the tibial plateau relative to the femoral condyles should be identified prior to drawer testing. In acute multiligamentous injuries, distal neurovascular status should be carefully assessed and recorded because limb-threatening vascular injury or severe neurologic deficits may be present. Substantial permanent peroneal or tibial nerve injury and severe knee instability can occur. After these goals have been achieved, progression to strengthening exercises may be initiated, with an emphasis on the quadriceps (short-arc terminal extension exercises from 30° to 0° of flexion). Failure of nonsurgical treatment typically manifests as recurrent instability and/or subsequent meniscal tears. After reconstructive procedures, instability is improved, but increased translation relative to the normal side may persist. After the initial healing stage of 1 to 5 days, rangeof-motion exercises and quadriceps muscle strengthening should be started. The patient should avoid activities that involve a high knee flexion angle until the hamstrings and quadriceps muscles become stronger. Initially, hamstring curls should not be performed to avoid a posterior subluxation force. The rehabilitation evaluation should include an assessment of quadriceps, hip, and trunk muscle strength. Adverse Outcomes of Treatment Osteoarthritic changes involving the medial and patellofemoral compartments are well-documented sequelae to both nonsurgical and surgical management, although a recent study questions the validity of this statement. Surgical reconstruction may be complicated by iatrogenic injury to the popliteal artery or tibial nerve, infection, thromboembolism, or graft loosening and recurrent instability. Referral Decisions/Red Flags Neurovascular compromise or deficits indicate the possibility of a knee dislocation. This condition commonly develops as a response to increased exercise or activity level and probably represents inflammation of the tibial periosteum secondary to repetitive muscle contraction. Clinical Symptoms Shin splints are generally associated with prolonged walking or running activity. Symptoms develop gradually with exercise, such as running on hard surfaces or early-season hill training, or with increased training intensity, pace, or distance. Pain is localized to the distal third of the medial tibia, the site of the origin of the tibialis posterior muscle. Tests Physical Examination the hallmark of examination for shin splints is tenderness along the posterior medial crest of the tibia in the middle or distal third of the leg. Treatment Mild shin splints may be relieved by limiting activity to soft surfaces, decreasing training, and avoiding hills. Further measures include cushioned antipronation shoe inserts, local ultrasound with phonophoresis, foot and ankle stretching and strengthening exercises, and a calf sleeve. Moderate shin splints may require replacing running with nonprovocative exercise, and severe shin splints may 760 Essentials of Musculoskeletal Care 5 © 2016 American Academy of Orthopaedic Surgeons Shin Splints respond only to restricting all but non­weight-bearing sports. Rarely, surgery such as excision of the inflamed tibial periosteum may be indicated, but its results are mixed. Referral Decisions/Red Flags Conditions such as stress fractures and exertional compartment syndromes must be ruled out before a diagnosis of shin splints is definitively made. Several factors, including overtraining, incorrect biomechanics, fatigue, hormonal imbalance, poor nutrition, vitamin D deficiency, and osteoporosis, have been implicated as contributing causes. The pain initially occurs only in association with exercise, but with continued activity, the pain is elicited with normal walking or even at rest or at night. Anterior (tension side) tibial stress fractures are tender on the subcutaneous anterior tibial crest; posterior medial (compression side) stress fractures are tender at the posterior border. Tests Physical Examination Tenderness is usually localized to the affected area of bone. Impact as well as varus, valgus, anterior, and posterior stress on the bone can cause pain. In bones that lie deep within muscle and cannot be easily palpated (for example, the femoral neck), eliciting pain by placing stress across the area of injured bone is a critical part of the examination. Six or more weeks after the onset of symptoms, a bony callus may be palpable in areas where subcutaneous tissues are thin, such as the anterior tibia. However, stress fractures may not be visible on plain radiographs for 3 weeks or longer after injury. When the pain is not severe, the patient is not involved in an occupation or athletic activity that puts him or her at risk for further injury, and the patient can keep his or her activity level below the pain threshold, radiographs may be repeated 3 to 4 weeks after the initial examination. Correlating these findings with the area of pain and tenderness is important because bone scans of athletes who place repetitive stresses on the legs often demonstrate areas of increased uptake in asymptomatic locations. B, Lateral view demonstrates medial tibial stress syndrome with more diffuse uptake along the posteromedial shaft of the tibia. Although complete fracture may occur, prolonged healing time is a more likely outcome of delayed diagnosis of a painful stress fracture. Treatment When diagnosed early, most stress fractures of the tibia and fibula respond well to a period of relative rest. Bone stimulators and long-leg pneumatic splints or other removable fracture braces have been proposed to expedite the healing process and alleviate some pain for patients with moderate pain. When substantial pain occurs with walking, initial treatment is cast immobilization and limited weight bearing. Lowimpact exercises such as bicycling and swimming may be substituted to maintain cardiovascular conditioning. Predicted time to return to © 2016 American Academy of Orthopaedic Surgeons 763 Stress Fracture activity depends on the severity and duration of symptoms before diagnosis. Anterior tibial stress fractures (tension side of the tibia) can occur at multiple sites on the same limb. Anterior fractures have a poorer prognosis, less likelihood of resolution, and a higher chance of progression to a complete, displaced fracture of the tibia. These patients must be followed closely, and if unresponsive to nonsurgical measures, may require surgical treatment with intramedullary nailing. Nonsurgical management of stress fractures, especially anterior tibial stress fractures, may fail. Surgical treatment with intramedullary nailing can result in permanent anterior knee pain. Menstrual cycle frequency, calcium and vitamin D intake, and potential eating disorders should be discussed with women. Treatment of this injury is controversial and ranges from cast immobilization with no weight bearing to intramedullary rod insertion. During standing and gait, the foot provides support, shock absorption, adaptation to uneven surfaces, balance, power, and direction. During more complex motions such as running and jumping, the functions provided by the foot and ankle increase. Therefore, it is not surprising that more than 20% of musculoskeletal problems affect the foot and ankle. The key to the successful diagnosis of foot and ankle pathology is to find the exact location of the problem because most of the problematic structures lie in close proximity to each other, as in the case of the posterior tibial tendon and the posterior tibial nerve. Identifying the precise location of the problem requires an understanding of the anatomy of the foot and ankle. Furthermore, certain systemic illnesses such as diabetes mellitus, peripheral vascular disease, neuropathy, and inflammatory arthritis can affect the foot and therefore should be evaluated in the medical history. A history of bilateral foot pain should prompt a search for a possible systemic or spinal etiology. A fracture, sprain, or infection should be suspected if the patient presents with acute pain. Always consider a stress fracture when a patient reports recent onset of pain over the metatarsals, especially in the distal aspects of the second or third metatarsals. Foot problems can result from overuse, trauma, congenital abnormalities, systemic illness, or ill-fitting shoes. Forefoot Problems Forefoot problems occur nine times more often in women than in men, a fact that is directly attributable to women wearing high-heeled and ill-fitting shoes. Shoe modification (lower heels, wider shoes) is always the first line of treatment. Bunions, hammer toes, claw toes, ingrown toenails, metatarsalgia, and interdigital neuromas account for most instances of forefoot pain. Limited extension (dorsiflexion) of the great toe is consistent with hallux rigidus. Pain and tenderness directly over the second or third metatarsals suggest a stress fracture. A bony prominence, or osteophyte, referred to as dorsal bossing, can be palpated and corresponds to the underlying arthritic joint. Hindfoot Problems Plantar heel pain secondary to plantar fasciitis is the most common problem in the hindfoot. The pain associated with this condition is often severe with the first few steps taken in the morning; patients normally are pain free during rest. It is very important to differentiate plantar fasciitis from Baxter nerve entrapment or distal tarsal tunnel syndrome, which also cause plantar heel pain, because the treatment modalities are different. Both of these problems present with consistent nerve-related pain, which usually continues in the resting period. Posterior heel pain may be related to irritation from shoes or associated with a prominent superior process of the calcaneus (Haglund deformity) and/or pathology in the Achilles tendon at its insertion. When evaluating a patient with posterior heel pain, make sure that the problem is not more proximal within the Achilles tendon; otherwise, a partial or even complete rupture of the tendon might be missed. A palpable bump inside the tendon should alert the physician to the presence of tendinosis or delayed rupture. A commonly overlooked problem in the hindfoot is posterior tibial tendon dysfunction. This condition is characterized by pain and tenderness posterior and distal to the medial malleolus in the region of the posterior tibial tendon. In the later stages of the disease, patients usually start to experience more pain on the lateral side of the ankle as the medial-sided pain subsides with further collapse of the arch and impingement of the structures under the fibula and calcaneocuboid joint. Acute anterolateral ankle pain, swelling, and, frequently, ecchymosis are the hallmarks of this condition. Patients with this history often report pain only when the ankle gives way and not at other times. However, patients with chronic ankle pain, which commonly occurs at the anterolateral aspect of the ankle, may have constant low-grade pain. Chronic pain and swelling on the posterolateral aspect of the ankle are consistent with injury to the peroneal tendons. Sural neuritis can result from recurrent ankle inversion injuries caused by traction. An acute osteochondral fracture (osteochondritis dissecans) or occult osteochondral edema with chondral injury of the ankle joint can present with diffuse ankle pain and an intra-articular effusion. Tarsal tunnel syndrome can cause chronic medial ankle pain but almost always is associated with neurologic symptoms and pain that radiates into the plantar aspect of the foot. Musculoskeletal Conditioning of the Foot and Ankle A conditioning program consists of three basic phases: strengthening exercises, to improve muscle power; stretching exercises, to improve range of motion; and proprioception, to enhance balance and agility. In addition, the exercise session should begin with an active warm-up, and plyometric exercises can be added for power after basic strength and flexibility have been achieved. Patient handouts are provided here and on the website for the strengthening and stretching exercises. A well-structured conditioning program also will prepare the individual for participation in sports and recreational activities. The greater the intensity of the activity in which the individual wishes to engage, the greater the intensity of the conditioning that will be required. A conditioning program for the body as a whole that includes exercises for the shoulder, hip, knee, and spine as well as the foot and ankle is described in Musculoskeletal Conditioning: Helping Patients Prevent Injury and Stay Fit, the in General Orthopaedics section of this publication. Dynamic joint stability is critical for injury prevention and improved performance during typical daily activities and sports activities. Strengthening Exercises Strengthening exercises for the foot and ankle include calf raises, ankle dorsiflexion/plantar flexion, and ankle inversion/eversion exercises. Heel cord stretches performed with the knee both straight and bent are good stretching exercises for the gastrocnemius-soleus muscle complex. Toe Strengthening Exercises the toe strengthening program can be helpful for patients with the particular conditions listed, including bunions, hammer toes, plantar fasciitis, and toe cramps. Proprioceptive Exercises Optimizing the proprioceptive system is important in preventing injuries such as ankle sprains in both athletes and nonathletes. Balance, or postural control, is the result of the integration of visual, vestibular, and proprioceptive afferent inputs. The goal of proprioceptive training is to enhance the activity of the proprioceptors, thereby improving their ability to protect the ligaments of the foot and ankle. Perturbation training is another way to optimize the proprioceptive system, especially in athletes. Perturbation exercises are performed on an unstable surface with perturbing forces applied in all directions.

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Showing physical affection (eg, hugging, touching, cuddling, tickling, patting) and being certain to avoid public embarrassment for adolescents provides opportunities to become comfortable with intimacy and physical affection in appropriate ways. Examples of strategies for encouraging desirable behavior for all ages are summarized here. Using descriptive praise provides encouragement and approval by describing behavior that is appreciated. This might include behaviors such as speaking in a pleasant voice, playing cooperatively, sharing, drawing pictures, reading, and compliance with instructions. Providing positive nonverbal attention (eg, a smile, wink, pat on the back, watching) will also encourage appropriate behavior. Through modeling, children learn how to behave appropriately, especially in relation to interpersonal interactions and moral issues. Incidental teaching is a technique in which a series of questions and prompts is used to respond to child-initiated interactions and promote learning. This approach promotes language, problem-solving, cognitive ability, and independent play in children older than 1 year. In a stepwise approach, children are first given verbal, then gestural, and then manual prompts to teach new skills. Behavior charts are effective tools for providing social attention and backup rewards contingent on the absence of a problem behavior or the presence of an appropriate behavior. This helps them to deal with a problem in a constructive and effective way and promotes independence. By organizing a set time for family members to work together to set goals for change, adolescents learn compromise, decision-making, and personal responsibility. Scheduling a review session to check on how the strategies worked and offering suggestions for the future can reinforce the strategies that emerge from family meetings. Regular family meals have been linked to lower levels of adolescent risk-taking behavior. Adolescents who frequently eat meals with their family are less likely to engage in risk behaviors than those who never or rarely eat with their families. It is important to keep in mind that focusing attention on promoting positive relationships and encouraging desirable behavior will greatly reduce the need to manage misbehavior. At the same time, numerous simple techniques are effective in managing misbehavior. Distracting the young child by drawing her attention away from a problematic activity to an acceptable activity is often beneficial. Children older than 3 years of age will respond to fair, specific, and enforceable ground rules that have been negotiated in advance. The use of directed discussion for rule breaking permits children to identify and rehearse the correct behavior after rule breaking. This is especially helpful for minor rule breaking and initial violations following the application of a new rule. Planned ignoring is a useful strategy for minor behavior problems in 1- to 7-year-olds. The parent can be advised to withdraw attention while the problem behavior continues and ignore attention-seeking behavior. One of the most important suggestions for parents is to become competent in giving clear, calm instructions. Children older than 2 years of age will respond well to receiving a specific instruction to start a new task or to stop a problem behavior and start a correct behavior. The consequence should involve the removal of an activity or privilege from the child or the child from an activity for a set time. This is effective for children older than 2 years of age when dealing with noncompliance and mild behavior problems that do not occur very often. Quiet time for misbehavior can be a valuable tool for children 18 months to 10 years of age. The child can be removed from an activity in which a problem has occurred and be instructed to sit on the edge of the activity for a set time. This can be helpful for noncompliance and for children who repeat a behavior after a logical consequence. By staying at the edge of the activity, children have a chance to see what they are missing, increasing their incentive to demonstrate desirable behavior when they return to the activity. The family may need to identify a safe place where all attention can be withdrawn from the child. It is important to consider the function of the problem behavior before deciding to use time-out. Timeout will generally be effective for attention-seeking behavior rather than avoidant behavior. If a child is acting out in order to avoid a certain request or activity, time-out may actually be an accidental reward. Time-out is helpful for children who refuse to sit in quiet time and for those having temper outbursts and aggressive or destructive behavior. Parents may need assistance in helping their adolescent manage unpleasant or intense emotional responses that interfere with effective problem-solving or lead to more conflict and distress. If this is not effective, he may need a cooling-off period while setting a later time to talk again. The parent should be encouraged to stay calm and use a cooling-off period for herself, if necessary. It is also important for parents to consider the possibility that emotional behavior is being used to avoid something the adolescent should do. It is important for parents to anticipate events that may lead to risk-taking behavior and prevent unexpected demands from leading to conflict or decision-making under pressure. Parents can be sure their adolescent has accurate information about the potentially risky behavior. Primary pediatric health care professionals can offer this type of information during a visit or with appropriate resources. Parents can role-play with their adolescent to give them an opportunity to practice the words they will use when pressured into a possible risky behavior. Parents should be sure their adolescent knows they will be available to rescue them if they find themselves in an uncomfortable situation. Parents can work with their child in advance to negotiate a fair set of rules with preordained consequences. This approach will ensure that important decisions are not made on inaccurate assumptions and that the adolescent has the chance to participate in peer activities with a clearly established plan to support her in avoiding risky behavior. Promoting Community Relationships and Resources Primary pediatric health care professionals are in a unique position to foster the development of community relationships to address the social and emotional development of children. In the course of daily practice, it is likely that assets that are available in the community to support children and families will become evident (see Chapter 25, Social and Community Services for Children With Developmental Disabilities and/or Behavioral Disorders and Their Families). In addition, opportunities for the development of new programs and services will become apparent through repeated contacts with families and community leaders. There are numerous evidence-based programs that have been developed as preventive and intervention models related to address the social and emotional development of children. Programs like Help Me Grow, which has over 20 affiliate partner states,76 have trained health care professionals to perform effective developmental surveillance, created resource inventories of community-based services, and developed a referral and monitoring system to link young children and their families with early childhood services and support. The Nurse-Family Partnership is a prenatal and early infancy home visiting program that has demonstrated better infant emotional and language development and improved maternal independence. The intervention services, provided free to participating families, consisted of 3 components: home visits, child attendance at a child development center, and parent group meetings. Infants participated in pediatric follow-up, which comprised medical, developmental, and social assessments, with referral for pediatric care and other services as indicated. Early Head Start is a federally funded, community-based program for low-income pregnant women and families with infants and toddlers up to age 3 years. Its mission is to promote healthy prenatal outcomes for pregnant women, enhance the development of children from birth to 3 years of age, and support healthy family functioning. Services include child development services delivered in home visits, child care, comprehensive health and mental health services, parenting education, nutrition education, health care and referrals, and family support. Big Brothers Big Sisters84 is a program that matches unrelated mentors who serve as role models for children to promote positive development and social responsibility. This program has been shown to reduce rates of alcohol, tobacco, or illegal drug use and appears promising in reducing violent behavior and serious conduct problems and in performing at grade level. The Reaching Educators, Children, and Parents program86,87 is a semistructured, school-based skills training program designed for children experiencing internalizing and externalizing problems. The Social Decision Making/Problem Solving program88,89 can be provided to any student, rather than targeting those with special characteristics. The Good Behavior Game is a classroom management strategy focused on improving attention and social skills that has demonstrated improved classroom behavior and long-term reductions in rates of antisocial personality disorder, tobacco, drug, and alcohol use, violence, and suicidal ideation in young adulthood. In 2005 in the United Kingdom, a 5-episode television series, Driving Mum and Dad Mad, aired on prime-time television. For some parents, television may be the only way they will access parenting information. Text4Baby is a mobile information service designed to promote maternal and child health through text messaging. As primary pediatric health care professionals identify needs in their community, it will be important to investigate and advocate for implementation of strategies that have been shown to be effective in other settings. By following the Bright Futures recommendations for promoting child development and mental/behavioral health, while also promoting community relationships and resources, the primary pediatric health care professional will be well positioned to support children, adolescents, and their families in fostering healthy social and emotional development. Each preventive health visit provides an opportunity to establish a context for the visit and to set priorities for the visit. Should these identify social and emotional development as a priority, then an appropriate review of the interval history, observation of parent-child interaction, surveillance of development and behavior, a physical examination, and screening will provide a fund of information to guide anticipatory guidance, office-based interventions, and referral to community resources. The Neuroscience of Human Relationships: Attachment and the Developing Social Brain. A Conceptual Framework for Adolescent Health: A Collaborative Project of the Association of Maternal and Child Health Programs and the National Network of State Adolescent Health Coordinators. American Academy of Pediatrics Council on Children With Disabilities; Section on Developmental and Behavioral Pediatrics; Bright Futures Steering Committee; Medical Home Initiatives for Children With Special Needs Project Advisory Committee. Understanding and negotiating cultural differences concerning early developmental competence: the six raisin solution. Weitzman C, Wegner L, American Academy of Pediatrics Section on Developmental and Behavioral Pediatrics, Committee on Psychosocial Aspects of Child and Family Health, Council on Early Childhood, and Society for Developmental and Behavioral Pediatrics. American Academy of Pediatrics Committee on Psychosocial Aspects of Child and Family Health. Pediatricians and early intervention: everything you need to know but are too busy to ask. The prevalence and incidence of perinatal anxiety disorders among women experiencing a medically complicated pregnancy. The relationship of adult health status to childhood abuse and household dysfunction. Pediatric Symptom Checklist: screening school-age children for psychosocial dysfunction. Comparison of diagnostic criteria for attention-deficit hyperactivity disorder in a county wide sample. Treating children with early-onset conduct problems: intervention outcomes for parent, child, and teacher training. Theoretical, Scientific, and Clinical Foundations of Triple P-Positive Parenting Program: A Population Approach to the Promotion of Parenting Competence. Queensland, Australia: Parenting and Family Support Centre, University of Queensland; 2003 56. Adopting a population-level approach to parenting and family support interventions. A randomized controlled trial evaluating the efficacy of Triple P Online with parents of children with early onset conduct problems. A practice-based intervention to enhance quality of care in the first 3 years of life: the Healthy Steps for Young Children Program. Healthy steps: a systematic review of a preventive practice-based model of pediatric care. Promotion of early school readiness utilizing pediatric primary care as an innovative platform. Use of videotaped interactions during pediatric well-child care to promote child development: a randomized, controlled trial. Randomized controlled trial of primary care pediatric parenting programs: effect on reduced media exposure in infants, mediated through enhanced parent-child interaction. Use of videotaped interactions during pediatric well-child care: impact at 33 months on parenting and on child development. The Optimistic Child: A Proven Program to Safeguard Children Against Depression and Build Lifelong Resilience. Group and individual cognitive-behavioral treatments for youth with anxiety disorders: a randomized clinical trial. A review of the literature on family meals as they pertain to adolescent risk prevention. Infant health and development program for low birth weight, premature infants: program elements, family participation, and child intelligence. Early educational intervention for very low birth weight infants: results from the infant health and development program. Making a Difference in the Lives of Infants and Toddlers and Their Families: the Impacts of Early Head Start, Vol I, Final Technical Report. Promoting first relationships: a relationship-focused early intervention approach.

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Determining the developmental trajectory can be an important diagnostic clue in determining an etiological diagnosis. A child with a developmental quotient of 50 through infancy and childhood would have a different set of diagnostic considerations than a child with typical development followed by a plateau in skills and subsequent developmental regression. The age of onset, speed of progression, and developmental domains most affected by regression may be characteristic of specific diagnoses. If recognized early in the course of the disease, bone marrow transplantation will halt the progression of the demyelinating process. Other conditions that may present with typical development early in life followed by behavioral concerns and subsequent progressive neurological signs and symptoms include the lysosomal storage disorders Sanfilippo, Niemann-Pick C, and neuronal ceroid lipofuscinosis. Mitochondrial diseases may result in stepwise developmental regression in the setting of fasting or acute illnesses. The typical developmental trajectory of females with Rett syndrome is one of apparently normal development over the first year of life, followed by rapid developmental regression, and then followed by subsequent stability with severe developmental delays. Girls with Rett syndrome may receive a diagnosis of autism and may have abnormal breathing patterns, seizures, acquired microcephaly, and frequent hand-wringing movements. In some cases, the finding that one developmental stream is significantly impaired out of proportion to other areas may be a diagnostic clue. In the case of prominent gross motor delay, a physician may consider diagnostic evaluation for spinal muscular atrophy 50 American Academy of Pediatrics Developmental and Behavioral Pediatrics or muscular dystrophy. Inborn errors of metabolism affecting creatine synthesis and transport characteristically result in severe language delays disproportionate to delays in other areas of development. Physical Examination Growth Parameters A universal and objective component of the medical developmental assessment is documentation of height, weight, and head circumference. Evaluation of the pattern of abnormalities noted on anthropomorphic measurements and their changes over time can guide providers to an etiological diagnosis. A wide array of genetic etiologies of developmental delay may present with concomitant short stature, including Noonan syndrome. Noonan is one of the most prevalent genetic conditions in the population, present in up to 1 per 1,000 individuals. The mutations may be de novo but may also be inherited from an affected parent as an autosomal dominant trait with a 50% recurrence risk. Characteristic features of Noonan syndrome include short stature, characteristic facial features, mild developmental delays, as well as cardiomyopathy and valvular heart disease. Diagnosis of Noonan allows for a specific care plan to be enacted, including use of growth hormone, monitoring of heart disease, and assessment for associated bleeding diathesis. Affected boys are likely to have language-based learning disabilities, small testes, and taller stature. Affected individuals typically have both tall stature and enlarged head circumference, as well as developmental delays and distinctive facial appearance. Hydrocephalus may be congenital or acquired, as in the case of premature infants with intraventricular hemorrhage. It may be isolated or associated with other anomalies, such as spinal dysraphisms. Fragile X syndrome, previously discussed, typically results in enlarged head circumference in affected males. Sequencing of this gene is indicated for all significantly macrocephalic patients with autism or developmental delay. Microcephaly is a common finding among children with developmental delays and, like macrocephaly, may be either congenital or acquired. In that case, head circumference early in life is likely to be normal, with the circumference progressively dropping with respect to the average for age. It is important to assess the head circumference in relation to height, as the relationship between the two percentiles may have diagnostic value. For example, patients with achondroplasia have both relative macrocephaly in comparison to height and absolute macrocephaly. Dysmorphology Dysmorphology is the practice of identifying unusual physical features for the purpose of determining an etiological diagnosis. The classic example of a syndrome with easily recognized dysmorphic features is Down syndrome. The characteristic features of Down syndrome are so well known that the clinical diagnosis is often made in the neonatal period, if it is not previously known due to prenatal testing. The exception may be the rare patients with mosaic trisomy 21, who have subtler dysmorphisms and less severe developmental delays. Dysmorphisms that are prevalent in Down syndrome include epicanthal folds, short palpebral fissures, midface hypoplasia, brachycephaly, short neck, single transverse palmar creases, and brachydactyly. Characteristic facial features of Noonan syndrome in a patient at ages 4 months, 1, 2, 5, 9 and 21 years of age. Smith-Lemli-Opitz syndrome is an inborn error of cholesterol metabolism resulting in developmental delays and dysmorphic features. Many patients may have ptosis, epicanthal folds, an upturned nose, microcephaly, and congenital heart defects, but less severely affected patients may lack these findings. Two characteristic dysmorphisms are often missed on examination: Affected males have abnormal genitals with hypospadias, cryptorchidism, or bifid scrotum, and most patients have syndactyly of the second and third toes. Without assessment of the morphology of the genitals and feet, the diagnosis may be missed. The dysmorphology examination can play an important role in the decision regarding whether genetic testing is indicated for a patient with developmental delays. The yield of genetic testing is significantly higher for those patients with dysmorphic features. The presence of hypertonia and brisk reflexes indicates injury to the pyramidal tracts, as is often seen in cerebral palsy. Low muscle tone with age-appropriate cognitive skills should spur evaluation for spinal muscular atrophy and muscular dystrophies. Unlike some other muscular dystrophies, boys with Duchenne muscular dystrophy will typically have some speech and cognitive delays. Boys with this X-linked disorder typically come to medical attention due to mildly delayed early gross motor milestones. They will typically achieve ambulation, but they then become progressively weaker and lose the ability to ambulate by the early teens. Hypotonia can also be a feature of inborn errors of metabolism, including peroxisomal disorders and mitochondrial disorders. Dermatological Examination Careful assessment of the skin may reveal diagnostic clues in a patient with developmental delays. In Sturge-Weber syndrome, capillary malformations of the trigeminal distribution on the face indicate intracranial vascular malformations that can result in seizures and developmental delays. Autism, developmental delays, and epilepsy are all highly prevalent in patients with tuberous sclerosis. Abdominal Examination Assessment for hepatomegaly and splenomegaly are particularly important in children with developmental plateauing or regression. Many lysosomal storage disorders with developmental manifestations will also result in abdominal organomegaly. These include Gaucher disease, Niemann-Pick disease (types A/B and C), mucopolysaccharidoses (apart from Sanfilippo), and cholesterol ester storage disease. There is a characteristic facial appearance with macrocephaly, full lips, enlarged maxilla, and depressed nasal bridge. They also have skeletal abnormalities with the inability to extend the fingers fully and short stature. Medical Evaluation Newborn Screening Newborn screening has been employed for many decades in the United States, and it has dramatically altered the natural history of some diseases. The specifics of the testing employed for the newborn screen differ slightly depending on the state in which a child is born, and these have changed significantly over time. Generally, most disorders of amino acid and fatty acid metabolism, most organic acidemias, galactosemia, and biotinidase deficiency are included on the screen. Similarly, newborn screening for congenital hypothyroidism and for congenital hearing loss has significantly decreased the number of children in the population with potentially preventable developmental delays. Since many primary pediatric health care professionals are no longer familiar with the untreated phenotypes of these diseases, it is important to verify that the newborn screen was done and the state in which testing was done. In some cases, later-onset hearing loss can be a cause of developmental delays and should always be tested in appropriate circumstances given the availability of speech therapy, sign language, hearing aids, and cochlear implants as effective interventions. Alternatively, hearing loss may be a diagnostic clue to the etiological diagnosis underlying developmental delay. Formal ophthalmological examination with a dilated retinal examination is an important diagnostic tool for the developmentally delayed child. Detection of cataracts may spur diagnostic evaluation for cerebrotendinous xanthomatosis, a disorder of cholesterol metabolism with effective pharmaceutical treatment. The finding of retinitis pigmentosa is associated with mitochondrial diseases, Bardet-Biedl syndrome, some disorders of glycosylation, and other diagnoses. Imaging the reported diagnostic yield of neuroimaging in the evaluation of a child with developmental delays varies widely depending on the specific population being studied and the method of ascertaining patients for inclusion in the analysis. The yield of imaging is higher in the setting of macrocephaly, microcephaly, or epilepsy, or with focal findings on neurological examination. Given these considerations, each primary pediatric health care professional must determine the appropriate application of neuroimaging in his or her specific practice setting. Conversely, confluent leukodystrophy of the anterior white matter is concerning for Alexander disease. Bilateral abnormal signal of the basal ganglia, midbrain, brainstem, or cerebellum may indicate Leigh syndrome and high suspicion for mitochondrial disease. Genetic Testing the availability of genetic services is widely variable by institution and by geographic location; hence the standard practice for genetic testing as part of a developmental evaluation will differ. It is important to understand the genetic mechanisms responsible for the suspected disorder prior to testing. The ordering primary pediatric health care professional must have the knowledge that methylation testing has significantly higher diagnostic yield for Angelman syndrome than gene sequencing, in order to obtain appropriate testing. If there is not suspicion for one specific diagnosis after the history and physical examination of a child with developmental delays, then trinucleotide repeat testing for fragile X syndrome and chromosome microarray analysis are indicated. Formerly known as DiGeorge syndrome, 22q11 deletion syndrome commonly causes mild developmental delay, congenital heart disease, abnormalities of the palate, hypoparathyroidism, and immunodeficiency due to hypoplasia of the thymus. Other causes of developmental delay that may be identified on microarray include Williams syndrome (7q11 deletion), Prader-Willi syndrome (paternally inherited 15q11 deletion), and Smith-Magenis syndrome (17p11 deletion). Occasionally, incidental but clearly pathogenic findings may occur, such as detection of the deletion of a tumor suppressor gene that would convey increased cancer risk. Lastly, most clinically available microarrays in current use will detect and report consanguinity between the parents of a child. Providers should obtain informed consent from the parents by reviewing the potential results of a microarray prior to obtaining the test. Recommended process for establishment of an etiological diagnosis for children with developmental delay. Examples of commonly used gene panels include those for patients with epilepsy, X-linked intellectual disability, and Noonan syndrome. Whole exome trio-sequencing of the entire coding region of all genes for the affected individual as well as both parents-is increasingly prevalent in the diagnostic evaluation of patients with developmental delays, though clinical availability varies widely in different practice settings. Exome trio is the highest-yield test in the setting of a patient with developmental delays but without features of a specific recognizable syndrome. The issues that should be discussed in order to obtain informed consent for untargeted sequencing tests are similar to those that arise for microarray but with higher likelihood of ambiguous and incidental findings. Clinically available diagnostic tests for genetic etiologies of developmental delay. The reported diagnostic yield of metabolic testing in the setting of developmental delay is 1% to 5%, depending on how patients are ascertained and which tests are included in the panel. While there is some overlap between metabolic testing obtained for the indication of developmental delay and the newborn screening panel, it is important to remember that many inborn errors of metabolism are not covered by newborn screening. For the disorders that are covered, the newborn screen is optimized for the population as a whole and not for the individual patient with known developmental delays. Primary pediatric health care professionals conducting developmental assessments may wish to consult with a local metabolic genetics service to discuss the capabilities of the institutional laboratory and the appropriate ascertainment of patients for metabolic testing at the time of the assessment. Conclusions Many factors affect developmental outcome, including genetic, metabolic, infectious, and environmental exposures. A careful history, including prenatal, perinatal, early postnatal and childhood issues, and a detailed family history can provide important clues to determining etiologic factors causing developmental-behavioral disorders. A thorough physical examination is critical, with attention to subtle changes in facial features and limbs, as well as growth parameters. Genetic testing has evolved significantly in recent years, with an improved ability to identify causative mutations and to make definitive diagnoses. Determining a clear diagnosis is now possible for many more patients with developmental-behavioral disorders than in previous decades. Identification of an etiological diagnosis can lead to tailored medical management and can improve developmental outcome in some cases. Having a better understanding of the underlying basis of the developmentalbehavioral disorder also may help to clarify the prognosis, and it gives parents a better 59 Chapter 4: Biological Influences on Child Development and Behavior and Medical Evaluation of Children With Developmental-Behavioral Disorders understanding of the recurrence risk in future pregnancies. With continued advances in genetic technology and better understanding of biological mechanisms, the coming years will bring yet more breadth and nuance to the understanding of the biological basis of developmental-behavioral disorders. Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence. Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Factor v Leiden and antiphospholipid antibodies in either mothers or infants increase the risk for perinatal arterial ischemic stroke. Maternal metabolic conditions and risk for autism and other neurodevelopmental disorders. Cognitive and behavioral outcomes of schoolaged children who were born preterm: a meta-analysis. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association.

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Treatment Initial management aims to decrease the inflammation and thickening of the plica. An injection of local anesthetic and corticosteroid preparation into the medial plica can be both diagnostic and therapeutic. An appropriate flexibility and strengthening program should be tailored based on the physical examination. With persistent symptoms, a palpable and painful plica, and no other evidence of other intra-articular disorders, arthroscopic resection of the plica should be considered. The home exercise program should include quadriceps strengthening exercises to reduce pain and prevent joint stiffness. Atrophy of the quadriceps muscle can be prevented with early isometric exercises such as straight leg raises. If symptoms do not respond to the home exercise program after 1 month, a more complex problem involving abnormal patellofemoral mechanics may be present, and formal rehabilitation should be recommended. The evaluation should include an assessment of foot mechanics, patellofemoral mobility, and strength of the hip and trunk muscles. After determining the extent of the muscle imbalances and mechanics, the rehabilitation specialist will develop, implement, and progress the treatment plan. Repeated intra-articular corticosteroid injections can result in accelerated destruction of articular cartilage and/or iatrogenic sepsis. Surgical resection may be ineffective or, in rare cases, complicated by thromboembolism, infection, and stiffness. Referral Decisions/Red Flags Continued discomfort and symptoms of instability indicate the need for further evaluation. Home Exercises for Plica Syndrome Number of Repetitions/Sets 4 repetitions, 2 to 3 times per day 4 repetitions, 2 to 3 times per day Work up to 10 repetitions/3 sets Exercise Type Standing quadriceps stretch Supine hamstring stretch Straight leg raise Muscle Group Quadriceps Hamstrings Quadriceps Number of Days per Week Daily Daily Daily Number of Weeks 3 to 4 3 to 4 3 to 4 Standing Quadriceps Stretch · Bend your knee up toward your buttock and grasp your ankle. Straight Leg Raise · Lie on the floor, supporting your torso with your elbows as shown. A popliteal cyst develops in the popliteal bursa located at the posteromedial aspect of the knee joint. This normally thin bursa communicates with the knee joint and becomes more prominent (cystic) when synovitis or trauma creates excessive joint fluid that then tracks into the popliteal bursa. Popliteal cysts are associated with degenerative meniscal tears and systemic inflammatory conditions such as rheumatoid arthritis. Occasionally, a larger cyst can cause a "mass effect" and produce symptoms (such as numbness of the plantar surface of the foot) consistent with tibial nerve neuropathy. Ruptures of popliteal cysts usually occur in patients older than 40 years who have degenerative arthritis or rheumatoid arthritis. If a cyst is identified, it should be palpated to determine the size and consistency of the cyst, the amount of tenderness produced, and the presence of a pulsatile mass. Most cysts are located between the medial head of the gastrocnemius muscle and the semimembranosus muscle. Effusion and accompanying mechanical signs indicate an intra-articular irritant generating the excessive joint fluid. Diagnostic Tests Radiographs of the knee are usually negative but may show the outline of the cyst or show calcification present in the cyst or within the knee. Ultrasonography is becoming an increasingly useful modality for © 2016 American Academy of Orthopaedic Surgeons 751 Popliteal Cyst imaging popliteal cysts. In addition to its role in characterizing the location and extent of the cyst, ultrasonography is useful in localizing needle placement for cyst aspiration. Cyst aspiration without ultrasonographic guidance should be approached with caution because of the proximity of neurovascular structures in the popliteal fossa. Cyst fluid may be gelatinous and not easily retrievable with a standard-bore needle. Rarely, a cyst will impinge on the tibial nerve and cause numbness on the plantar surface of the foot or will rupture and cause pain in the posterior calf that, with the swelling, may mimic a deep vein thrombosis. Treatment the benign nature of this condition should be emphasized to each patient. Aspiration has been suggested but may provide only transient relief because the cyst lining remains intact and the fluid often reaccumulates. When intra-articular lesions that increase production of synovial fluid can be successfully treated (usually by arthroscopic excision of a torn medial meniscus), the cyst usually resolves spontaneously and excision is unnecessary. Ruptured popliteal cysts are treated symptomatically with minor analgesics, rest, and elevation. Open excision is associated with the 752 Essentials of Musculoskeletal Care 5 © 2016 American Academy of Orthopaedic Surgeons Popliteal Cyst risk of injury to neighboring nerves and blood vessels; dissection should be performed with caution. The recurrence rate when excision is combined with resolution of any internal derangement is low (approximately 5%). Referral Decisions/Red Flags Night pain, weight loss, fever and/or chills, or other constitutional symptoms indicate the possibility of a neoplastic process and therefore the need for further evaluation. A pulsatile mass within the popliteal cyst may represent a popliteal artery aneurysm that requires evaluation by a vascular surgeon. This combination most commonly occurs in contact sports, secondary to a direct load on the anteromedial proximal tibia with the knee in extension. This mechanism of injury frequently results in a knee dislocation with or without spontaneous reduction. Patients also may report pain and feelings of instability with weight bearing, especially with combined ligamentous injuries. With a normal posterior cruciate ligament, the tibial plateau is 1 cm anterior to the femoral condyles. More advanced exercises should be performed under the supervision of a rehabilitation specialist or other trained exercise professional. Pull your foot outward against the resistance, then return slowly to the starting position. Home Exercise Program for Foot and Ankle Conditioning Stretching Exercise Heel Cord Stretch · Stand facing a wall with one foot in front and the toes of both feet pointing forward. Stretch with knee bent: Start in the same position, but allow the back knee to bend. Move your hips toward the wall until you feel a stretch in the back of the calf of your left leg. Golf Ball Roll · Roll a golf ball under the ball of your foot for 2 minutes to massage the bottom of the foot. Home Exercise Program for Foot and Ankle Conditioning Marble Pickup · Place 20 marbles on the floor. You can ask the patient to point to this spot using one finger, or the spot can be localized during the physical examination. Observe the alignment of the great and lesser toes, the position of the foot in relation to the limb, and the medial curvature of the forefoot (metatarsus adductus). The anterior tibial tendon should be identified as an indentation, especially at its attachment to the medial cuneiform. Failure to identify the tendon should alert you to possible anterior tibial tendon rupture. Inspect for a high arch (cavus foot), flatfoot posture (pes planus), or undue prominence of the medial midfoot (accessory navicular). Inspect for callosities, ankle swelling, or prominence of the posterior calcaneus. Normal alignment is neutral or slight valgus (turned-out heel), with no more than one or two lateral toes visible from behind. A patient with an acquired flatfoot from posterior tibial tendon dysfunction will have increased valgus of the calcaneus and more than two visible toes ("too many toes" sign). Standing on Toes With the patient standing on the toes, look to see that the heels move into a normal varus (inward) position. A patient with an acquired flatfoot secondary to posterior tibial tendon dysfunction will not be able to rise up on the toes of the affected foot, and the heel will not be able to turn to neutral and remain in valgus. Because tibial torsion is typically asymmetric, one foot is normally positioned in more external rotation. Normal gait demonstrates equal stride length, foot position, and weight distribution. Pronation occurs in the foot with dorsiflexion of the ankle and internal rotation at the leg, knee, and hip. As the body and leg move forward, supination begins with plantar flexion of the ankle. Look for obvious limp, lurch, dragging of the feet, intoeing, outtoeing, and footdrop gait. An antalgic gait should be noted when stance phase is abnormally shortened relative to swing phase. Slapping-type gait is usually associated with ankle dorsiflexion weakness in patients with anterior tibial tendon rupture or radiculopathy. Inspect the lesser toes for abnormalities in alignment such as hammer toe, mallet toe, or claw toe. Claw toe, in which the metatarsophalangeal joint is extended and the proximal interphalangeal and distal interphalangeal joints are flexed, commonly occurs in patients with diabetes mellitus, rheumatoid arthritis, Charcot-Marie-Tooth disease, or cavus foot deformities. Multiple toes tend to be involved, and often a hard callus (corn) is apparent over the proximal interphalangeal joint. Inspect the toenails for poor techniques in trimming and signs of infection from an ingrown toenail. Inability to actively spread the toes can indicate loss of intrinsic muscle function. Plantar Surface With the patient supine, inspect the bottom of the foot for plantar warts, which usually do not occur beneath the metatarsal head; a plantar callus, which occurs beneath the metatarsal head; prominence of the metatarsal heads; ulceration (especially in diabetic feet); or a thin fat pad. Swelling and tenderness of the Achilles tendon at its insertion is associated with tendinitis or calcific tendinosis. Peroneal Tendons Palpate behind and below the fibular malleolus for tenderness or swelling associated with peroneal tenosynovitis or for subluxation of the tendons during active eversion, dorsiflexion, and plantar flexion of the ankle. Sural neuritis can be identified with a positive Tinel sign (pain on tapping the nerve trace). In patients with tarsal tunnel syndrome, percussion over the nerve should reproduce symptoms, often described as "shooting" pains (paresthesias) in the heel and plantar aspect of the foot. Patients with posterior tibial tendon dysfunction will have swelling and tenderness along the course of the tendon in this region. In patients with chronic ankle pain, palpate at the anterolateral corner of the ankle joint (soft junction of the tibia, fibula, and talus) for synovitis. Take care to differentiate pain in the anterolateral corner of the ankle from pain in the sinus tarsi, which is more distal and anterior and may indicate inflammation or pathology of the subtalar joint. Plantar Fascia Palpate the plantar fascia for tenderness or swelling or nodules from the heel to the ball of the foot. With proximal plantar fasciitis, tenderness is noted with considerable pressure over the medial proximal aspect of the plantar fascia at its origin from the calcaneus. Rupture of the plantar fascia is associated with tenderness and swelling in the middle third of the plantar fascia. Plantar fibromatosis causes swelling and thickening of the plantar fascia, typically beginning in the middle portion. If the sesamoids are the source of the pain, the tender spot will move as the toe is flexed and extended. The medial sesamoid is more commonly injured or inflamed than is the lateral sesamoid. With hallux rigidus, dorsal osteophytes are present at the great toe metatarsophalangeal joint. Range of Motion Patients with hyperelasticity always show more range of motion compared with patients who have a standard level of flexibility. This should not be assessed as hypermobility or instability, and the patient should be tested for hyperelasticity prior to range of motion examination of the foot and ankle. Ankle Motion: Zero Starting Position To evaluate ankle motion, a goniometer is needed. Ankle dorsiflexion is movement of the foot toward the anterior surface of the tibia, and ankle plantar flexion is movement of the foot in the opposite direction. Normal active ankle dorsiflexion is 10° to 20°, and normal plantar flexion is 35° to 50°. As the foot moves from dorsiflexion to plantar flexion, much of the motion occurs at the ankle joint, but other joints in the foot also contribute to this movement. Distinguishing the dorsiflexion/plantar flexion motion that occurs at the ankle joint from that at other joints is difficult; fortunately, it is not critical. Therefore, it is understood that clinical measurements of ankle motion also record motion of other joints of the foot. Align the goniometer with the axis of the leg and the lateral side of the plantar surface of the foot. To relax the gastrocnemius, measure ankle motion with the knee flexed approximately 90°. To assess heel cord tightness, measure ankle dorsiflexion with the knee fully extended. Precise measurements are difficult with standard techniques; therefore, in the clinical setting, these motions usually are estimated visually. This position limits lateral motion at the ankle joint, and therefore provides better assessment of talocalcaneal mobility. Use one hand to grasp the distal leg around the malleoli, and place your other hand under the heel to maintain the neutral ankle position, passively, manually turning the heel inward and outward several times. Restricted motion may be seen in patients following an acute ankle sprain and with subtalar arthritis, end-stage posterior tibial tendon dysfunction, or tarsal coalition (bony connection between talus and calcaneus). Supination and Pronation Supination and pronation refer to rotation of the foot about an anterior/posterior axis. Supination (A) includes inversion of the heel, as well as adduction and plantar flexion of the midfoot.