Identification: developmental surveillance and screening. Identifying and evaluating the child with a suspected developmental disorder typically begins with concern regarding a delay in the child’s acquisition of developmental skills. Such concern may arise directly from the parent. In fact, parental concern has been demonstrated to predict lower standard scores and to accurately identify major delays (17; 37; 15). Another source is through surveillance and screening by the primary care health provider during ongoing well-child care. Current recommendations for the early identification of developmental disorders by the American Academy of Pediatrics include:
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(1) Performance of developmental surveillance at every preventive visit
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(2) Administration of a standardized developmental screening test to all children at the 9-, 18-, and 24- or 30-month preventive care visits
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(3) Administration of a standardized developmental screening test when concerns arise through surveillance (04).
When developmental surveillance and screening suggest the possibility of a developmental disorder, further medical and developmental evaluation should be performed to establish the extent of concern and to initiate evaluation for an underlying etiology.
Developmental surveillance. Developmental surveillance is a flexible, longitudinal, continuous, and cumulative process performed over time (04). The clinician inquires about developmental concerns, identifies key historical risk factors, and obtains a developmental history of milestone achievement from the parent. Informal observations of a child’s development are made during the physical examination. As much as the clinical environment allows, developmental surveillance should include direct observation of developmental skills attainment over time. The child health care provider should suspect a developmental problem when a child shows consistent delay in 1 or more streams of development or when deviancy or regression are observed. When such concerns arise, the child should be referred for formal developmental evaluation.
Developmental screening. Developmental screening is a more formal procedure, performed on all children at discrete times during preventive health care. It employs standardized screening tests to identify children in need of further evaluation for a developmental disorder and can be for generalized development or specific disorders. Screening does not result in a diagnosis but can alert medical professionals to the need for further evaluation. A child may be assigned a risk category rather than continuous standard scores. Those in the suspect category typically require more frequent surveillance or screening, whereas those at highest risk require more detailed developmental and medical testing. No specific screening tool is recommended. The appropriate tools should be chosen for reliability and sensitivity in the population being considered as well as for feasibility and sustainability in the clinical context (04).
Developmental evaluation. Developmental assessment is a more complex process aimed at identifying specific developmental disorders. It is comprised of developmental testing in each stream of development, with interpretation of any abnormal patterns (eg, delay, deviancy, dissociation, and regression). This may require involvement of multidisciplinary expertise for appropriate testing in each of the developmental streams. Delays in language and nonverbal abilities on both history and evaluation, accompanied by a history of delays in adaptive skills, suggest a diagnosis of intellectual disability. Delays in language development with normal nonverbal skills (dissociation) imply a communication disorder diagnosis.
Developmental disorders present to professionals at varying points in time, depending on the affected stream of development and the severity of the delay. Children with severe motor disabilities typically present with absence of rolling or sitting in infancy. When mild, the toddler may have a delay in onset of independent walking or deviant toe-walking. The child with a communication disorder, including autism, or an intellectual disorder may present to the physician as early as 18 months with absence of early vocabulary development, interest in others, use or response to name or pointing, imitation, or following of simple verbal requests. Others with communication or intellectual disabilities may present between ages 2 to 3 years, when vocabulary fails to grow, short sentences are not formed, or verbal requests cannot be followed. Isolated learning disorders are not apparent until children fail to acquire academic achievement in school age.
Evaluation of the child with developmental delay. The medical consultative evaluation is typically performed by child neurologists who are also neurodevelopmental disabilities specialists, developmental and behavioral pediatricians, child neurologists, pediatricians with experience in neurodevelopmental disabilities, or others with expertise in medical genetics or physical medicine and rehabilitation. The aims are the identification of developmental diagnoses, the recognition of an underlying etiology, offering of prognostic information, and the initiation of appropriate therapy as well as ongoing medical treatment of related problems. With improved identification of monogenic intellectual disabilities and understanding of the cellular pathways involved (eg, everolimus for tuberous sclerosis), there are a number of emerging treatments that may hold promise for targeting the underlying disorders, increasing resolve to find etiologies for developmental disorders (70).
Patient history. The consultative medical evaluation of the child with delayed development begins with a comprehensive review of the developmental history. Using the core principles of delay, dissociation, deviance, and regression through identification of the ages of milestone acquisition, coupled with measurement of developmental quotient, the developmental history provides clues to the developmental diagnosis. Additional behavioral history can reveal abnormal patterns of social or play behaviors, with reports of hyperactivity, impulsivity, noncompliance, aggression, destruction, stereotypy, solitary play, or self-injury.
A comprehensive medical history provides valuable information on etiology as well as guidance for management. The cause of cognitive or developmental delay can be identified in approximately one third of children based on history and physical exam alone (69). History should include prenatal history for exposure to teratogens, interuterine infections, or other risks (eg, gestational diabetes or pregnancy-related hypertension). History of documentation of complications during labor or delivery should be sought as well as neonatal complications such as prematurity, intraventricular hemorrhage, periventricular leukomalacia, seizures, retinopathy, or hypoxic-ischemic encephalopathy (48). Information on medical illnesses or surgical procedures can identify developmental risk factors such as serious infections, head trauma, seizure disorders, congenital anomalies, and chronic medical, metabolic, or endocrine disorders. A full review of systems could provide information relevant for etiology and also for co-occurring conditions that need to be addressed. This includes descriptions of diet, sleep, mental health concerns, and recurrent or chronic pain. A child’s family history can reveal relatives with related genetic, developmental, learning, or intellectual disorders. Social history is useful for understanding related family risk and protective factors and offers insight into the current level of support. Various patterns of developmental abnormalities can be observed in cases of neglect, abuse, or deprivation (09). Current family stressors such as problems in health, employment, marriage, physical abuse, or substance abuse are important to identify in order to assist the family in receipt of community services and support and, therefore, to minimize such problems and their effect on the child and family.
Physical examination. Performance of a comprehensive physical examination can further assist in indentifying related medical conditions. The examination should include growth measurement, general physical examination, and neurologic examination. Comparison of weight, height, and head circumference to age norms can assist in identifying conditions and syndromes associated with failure to thrive, short stature, overgrowth, obesity, microcephaly, and macrocephaly. The general physical exam can identify congenital anomalies or markers of an underlying genetic disorder, such as neurocutaneous lesions, midline defects, cardiac anomalies, or genitourinary findings. Dysmorphic features of the head, face, ears, or hairline suggesting genetic disorders may be seen. In infants and young children, the neurologic examination should include classic elements evaluating cranial nerve function, tone, strength, and reflexes but should also assess reactivity and level of consciousness, motor function as well as the pathological, primitive, and postural reflexes that emerge or diminish through the course of normal development (13; 30). In the older ambulatory child, evaluation of gait quality, functional movement, and fine motor movement provides additional information. In the school-age child, soft or subtle signs, such as mild axial hypotonia, synkinesia, or dyskinesia, as observed while doing repetitive hand movements or walking with a stressed gait, may accompany disorders of communication, learning, and ADHD (67; 16; 44; 51).
Developmental evaluation. Developmental evaluation is a critical part of the comprehensive evaluation and must be tailored to the age and presentation of the child, as well as the current treatment, education, or social needs. Evaluations by related professionals in the fields of psychology, early childhood education, speech-language pathology, audiology, physical therapy, occupational therapy, and social work may offer information useful to making a diagnosis as well as provide information regarding a child’s therapeutic and educational needs and related child and family support. A large variety of instruments are commercially available, ranging from comprehensive measures of several domains to measures of specific domains, such as articulation. The clinician must choose tests based on the age of the child, the area of development, the psychometric properties of the test, and the time required for administration. The Capute Scales (02), the Battelle Developmental Inventory (49), and the Mullen Scales of Early Learning (45) are valid multi-domain evaluations in the infant, toddler, and preschooler. In the school-age child with academic concerns, achievement tests, such as the Wide-Range Achievement Test (71), can clarify a child’s abilities in reading, arithmetic, and spelling. Formal psychological measures of intelligence should be performed by psychologists when a child is suspected of having an intellectual or learning disability. Behavior typically is assessed through parent or teacher questionnaire completion and can be broad-based, looking at a wide range of behaviors, or diagnosis-targeted such as autism- or ADHD-specific questionnaires. Observation of behavior in different contexts may also be undertaken, particularly if there is differing reports across environments.
Investigations. Formal assessment for sensory impairments should be performed to exclude sensory impairments as a cause for developmental abnormalities and look for markers of associated conditions in possible syndromic conditions that include developmental delays. Sensory impairments are typically identifiable during the first year of life. The vision-impaired child will fail to fix and follow objects by 3 months of age. The hearing-impaired child who is not identified during newborn hearing screening can be recognized with lack of response to sound or turning to voice during the first 6 months or through absence of saying “mama” or “dada,” but can be missed when hearing impairment is not complete or is progressive.
Laboratory investigation. Metabolic disorders should also be investigated if there is a history of periodic change, loss of skills, or precipitation of symptoms by illness. Newborn screening detects many inborn errors of metabolism, but because these conditions are potentially treatable, and we do not know the false-negative rate of newborn screening in many cases, it is also important to consider them during evaluation (68; 42). If children have been born in jurisdictions where newborn screening is not routine, comprehensive laboratory tests for inborn errors of metabolism should be considered early in evaluation. Serum lead and thyroid function tests should be considered in the appropriate context (43) and ferritin is commonly recommended in cases of dietary restriction in association with developmental delays (42).
Genetic investigations. Identifying a specific diagnosis may inform treatment decisions, allow for specific anticipatory guidance, and provide recurrence-risk information for family planning. For this reason, evaluation for developmental delay and autism spectrum disorders includes genetic work-up. If a specific genetic syndrome is suspected based on the rest of the examination, the appropriate test should be sent. However, in cases where the clinical history, family history, physical exam, and developmental exam do not suggest a specific disorder, chromosomal microarray is considered first-line evaluation (41; 20; 60; 43). In a query of the International Standards for Cytogenomic Arrays Consortium database, at least 7% of the cases had a diagnosis leading to specific clinical management implications (58), but some reports indicated a diagnostic yield up to 20% (38). Analysis of FMR1 for fragile X is currently recommended in guidelines for all boys and girls in whom the cause of their developmental delay is unknown as first-line testing with microarray. However, the prevalence of all other X-linked disorders exceeds fragile X (43), and some guidelines recommend testing only in select cases (29). MECP2 for Rett syndrome should be considered in girls in the right clinical setting. Second-tier genetic testing for single gene disorders or gene panels can be added based on clinical picture, such as X-linked intellectual disability panels in boys. Whole exome or whole genome sequencing are emerging technologies that are becoming much more widely available. Some tertiary centers have reported diagnostic hit rates of 40% to 68% for children with developmental disabilities and other features suggestive of a genetic cause, dysmorphisms, other organ system abnormalities, abnormal neuroimaging, etc. (60; 64; 65). Whole exome or whole genome sequencing holds promise for the evaluation of developmental disabilities, but because of the complexity of interpreting and reporting these tests, it should only be done by experienced clinicians after extensive genetic counseling with the families.
Neuroimaging. MRI of the brain as a tool to investigate global developmental delay is controversial. MRI remains a resource-intensive investigation, and although there is little risk involved in MRI, there is a small risk associated with general anesthetic required in young children. There is a wide range of reported rates of abnormalities (0% to 98%), but it is often recommended to investigate for underlying etiology if developmental delay is severe, affecting multiple domains, or if there are any other neurologic signs or symptoms (eg, epilepsy) (29; 46). Neuroimaging should be considered when examination reveals significant motor findings or focal neurologic abnormalities or when microcephaly, macrocephaly, or changing head circumference growth velocity is seen. In children with idiopathic cerebral palsy, the American Academy of Neurology and Child Neurology Society recommend neuroimaging, preferably with MRI (06). CT is not recommended for the evaluation of developmental delay.
Other. Further investigations should be tailored to specific indications that may arise during comprehensive medical history and physical exam. An EEG is recommended only if there is suspicion of seizure or patterns suggestive of specific epilepsy syndromes (62).
Treatments and interventions.
Management of the child with developmental delay. After completion of a comprehensive medical and developmental evaluation of the child with developmental problems and the establishment of developmental diagnoses and identification of associated medical conditions, a plan for active treatment and comprehensive management can be initiated by the physician. Beginning with early identification of these problems, an affected child can receive educational and intervention services aimed at improvement of the child’s development through local early intervention and special education programs. These should not be delayed by ongoing investigations into the possible etiology of the delay if that is required. Internationally the rights for children with disabilities are recognized in article 23 of the United Nations Convention on the Rights of the Child, which was ratified by 198 countries (every member state of the United Nations except the United States) and entered into force in September 1990 (14). It asserts that children with disability should “enjoy a full and decent life” and should receive “education, training, health care services, rehabilitation services, preparation for employment and recreation opportunities”. The rights of children with disability to life, education, and community participation were further emphasized in the 2008 United Nations Convention on the Rights of Persons with Disabilities. Within the United States, access to early education and intervention services aimed at improving the child’s development through local intervention and special education programs was established through federal law under the Individuals with Disabilities Education Act (32).
Beginning as early as birth and continuing through age 3 years, any child with a known disability, significant delay, or condition with a high risk for disability (eg, Down syndrome) is entitled to early intervention services that provide developmental therapies intended to improve performance in 1 of the developmental spheres. These can include traditional therapies, such as physical therapy, occupation therapy, and speech-language therapy, as well as broader services such as special instruction, counseling, and family training. Many programs provide for parent training or home-based therapy to allow for generalization of skills learned (12; 59). For children 3 years and older and continuing into the school-age years, children with disabilities should have access to individualized, free, and appropriate education along with related therapy services (05; 36).
Specific medical treatments targeted towards a child’s related medical conditions are also important. Children with cerebral palsy should be considered for medical treatment of tone abnormalities with oral agents, intramuscular botulinum toxin, or intrathecal baclofen in addition to receiving physical therapy (47; 11; 08; 63). Children with early-onset epilepsy associated with tuberous sclerosis complex may have better developmental outcomes with early intervention using medications that target the neurobiology of disease (27; 34). Careful screening for other co-occurring and potentially interfering conditions, particularly those that could interfere with optimal development, should be undertaken on an ongoing basis. For example, dental issues are common in children with disabilities, can result in pain and interfere with behavior and sleep, and may require specialized care (35). Up to 80% of children with neurodevelopmental disabilities are reported to have sleep disorders (03; 10).
Children with communication or intellectual disability who demonstrate comorbid behavior disorders may benefit from psychopharmacologic treatments, such as stimulants for ADHD (66). A meta-analysis of treatment of children with ADHD indicated high-quality evidence that psychostimulants (formulations of methylphenidate or amphetamine) have a moderate-to-large effect on oppositional behavior, cognitive problems, and aggression symptoms. Other ADHD medications (alpha-2 agonists or atomoxetine) have a small to moderate effect on these symptoms (54). Risperidone and aripiprazole have evidence in treating aggression in children with autism spectrum disorder (57; 22) but require regular clinical and laboratory monitoring to ensure safety (53). Based on a systematic review, there is moderate-quality evidence that risperidone has a moderate-to-large effect on conduct problems and aggression in youth with below-average IQ, with and without ADHD, and high-quality evidence that risperidone has a moderate effect on disruptive and aggressive behavior in youth with average IQ and oppositional defiant disorder or conduct disorder, with and without ADHD (55).
Finally, the child with a developmental disability should have a medical home as a child with special health care needs (40; 05; 31). This allows the primary care provider a program of chronic condition management for regular health monitoring for chronological age and developmental monitoring in order to provide anticipatory guidance for developmental age. In cases where complex care management is required, some centers have implemented specific care coordination services that can assist with planning of multiple services and supports, which have been shown to improve care access, needs met, and family empowerment (39). Specialized, condition-related office visits, written care plans, explicit co-management with medical specialists, appropriate patient education, and an effective system for monitoring and tracking should be put in place. Ongoing surveillance for other behavioral, mental health, and developmental concerns should also be undertaken on an ongoing basis. It has been shown that individuals with developmental concerns have a high incidence of these co-occurring mental health conditions and that they can go unrecognized due to diagnostic overshadowing (56).
Psychosocial education and support should incorporate the caregivers and families of children with developmental disorders. Both the primary care physician and the specialist can refer the family to community-based support services, such as respite care, parent-to-parent programs, and advocacy organizations. Parent organizations and condition-specific organizations can provide further family support, assistance, and information, including information on specific community services (26). Some children will qualify for additional benefits, and physicians or multidisciplinary support (such as social workers) in the child’s medical home should be informed about these additional services and their qualifications. As children become young adults and undertake a transition to adult services, there can be an increased burden on families and caregivers of people with intellectual disability. Where available, transition resources should be employed to ensure ongoing support of individuals’ needs (18).