Keywords
Special needs, Early Intervention, Medical home, Vision, Hearing, Cerebral palsy
Children with disabilities, severe chronic illnesses, congenital defects, and health-related educational and behavioral problems are children with special health care needs (SHCN) . Many of these children share a broad group of experiences and encounter similar problems, such as school difficulties and family stress. The term children with special health care needs defines these children noncategorically, without regard to specific diagnoses, in terms of increased service needs. Approximately 19% of children in the United States younger than 18 years of age have a physical, developmental, behavioral, or emotional condition requiring services of a type or amount beyond those generally required by most children.
The goal in managing a child with SHCN is to maximize the child’s potential for productive adult functioning by treating the primary diagnosis and by helping the patient and family deal with the stresses and secondary impairments incurred because of the disease or disability. Whenever a chronic disease is diagnosed, family members typically grieve, show anger, denial, negotiation (in an attempt to forestall the inevitable), and depression. Because the child with SHCN is a constant reminder of the object of this grief, it may take family members a long time to accept the condition. A supportive physician can facilitate the process of acceptance by education and by allaying guilty feelings and fear. To minimize denial, it is helpful to confirm the family’s observations about the child. The family may not be able to absorb any additional information initially, so written material and the option for further discussion at a later date should be offered.
The primary physician should provide a medical home to maintain close oversight of treatments and subspecialty services, provide preventive care, and facilitate interactions with school and community agencies. A major goal of family-centered care is for the family and child to feel in control. Although the medical management team usually directs treatment in the acute health care setting, the locus of control should shift to the family as the child moves into a more routine, home-based life. Treatment plans should allow the greatest degree of normalization of the child’s life. As the child matures, self-management programs that provide health education, self-efficacy skills, and techniques such as symptom monitoring help promote good long-term health habits. These programs should be introduced at 6 or 7 years of age or when a child is at a developmental level to take on chores and benefit from being given responsibility. Self-management minimizes learned helplessness and the vulnerable child syndrome , both of which occur commonly in families with chronically ill or disabled children.
Multifaceted Team Assessment of Complex Problems
When developmental screening and surveillance suggest the presence of significant developmental lags, the physician should take responsibility for coordinating the further assessment of the child by the team of professionals and provide continuity of care. The physician should become aware of local facilities and programs for assessment and treatment. If the child is at high risk for delay (e.g., prematurity), a structured follow-up program to monitor the child’s progress may already exist. Under federal law, all children are entitled to assessments if there is a suspected developmental delay or a risk factor for delay (e.g., prematurity, failure to thrive, and parental mental retardation [MR]). Special programs for children up to 3 years of age are developed by states to implement this policy. Developmental interventions are arranged in conjunction with third-party payers with local programs funding the cost only when there is no insurance coverage. After 3 years of age, development programs usually are administered by school districts. Federal laws mandate that special education programs be provided for all children with developmental disabilities from birth through 21 years of age.
Children with special needs may be enrolled in pre-K programs with a therapeutic core, including visits to the program by therapists, to work on challenges. Children who are of traditional school age (kindergarten through secondary school) should be evaluated by the school district and provided an individualized educational plan (IEP) to address any deficiencies. An IEP may feature individual tutoring time (resource time), placement in a special education program, placement in classes with children with severe behavioral problems, or other strategies to address deficiencies. As part of the comprehensive evaluation of developmental/behavioral issues, all children should receive a thorough medical assessment. A variety of other specialists may assist in the assessment and intervention, including subspecialist pediatricians (e.g., neurology, orthopedics, psychiatry, developmental/behavioral), therapists (e.g., occupational, physical, oral-motor), and others (e.g., psychologists, early childhood development specialists).
Medical Assessment
The physician’s main goals in team assessment are to identify the cause of the developmental dysfunction, if possible (often a specific cause is not found), and identify and interpret other medical conditions that have a developmental impact. The comprehensive history ( Table 10.1 ) and physical examination ( Table 10.2 ) include a careful graphing of growth parameters and an accurate description of dysmorphic features. Many of the diagnoses are rare or unusual diseases or syndromes. Many of these diseases and syndromes are discussed further in Sections 9 and 24 .
| ITEM | POSSIBLE SIGNIFICANCE |
|---|---|
| Parental concerns | Parents are quite accurate in identifying development problems in their children. |
| Current levels of developmental functioning | Should be used to monitor child’s progress |
| Temperament | May interact with disability or may be confused with developmental delay |
| PRENATAL HISTORY | |
| Alcohol ingestion | Fetal alcohol syndrome; index of caregiving risk |
| Exposure to medication, illegal drug, or toxin | Development toxin (e.g., phenytoin); may be an index of caregiving risk |
| Radiation exposure | Damage to CNS |
| Nutrition | Inadequate fetal nutrition |
| Prenatal care | Index of social situation |
| Injuries, hyperthermia | Damage to CNS |
| Smoking | Possible CNS damage |
| HIV exposure | Congenital HIV infection |
| Maternal illness (so-called “ TORCH ” infections) | T oxoplasmosis, Syphilis ( O ther in the mnemonic), R ubella, C ytomegalovirus, H erpes simplex virus infections |
| PERINATAL HISTORY | |
| Gestational age, birthweight | Biological risk from prematurity and small for gestational age |
| Labor and delivery | Hypoxia or index of abnormal prenatal development |
| APGAR scores | Hypoxia, cardiovascular impairment |
| Specific perinatal adverse events | Increased risk of CNS damage |
| NEONATAL HISTORY | |
| Illness—seizures, respiratory distress, hyperbilirubinemia, metabolic disorder | Increased risk of CNS damage |
| Malformations | May represent genetic syndrome or new mutation associated with developmental delay |
| FAMILY HISTORY | |
| Consanguinity | Autosomal recessive condition more likely |
| Mental functioning | Increased hereditary and environmental risks |
| Illnesses (e.g., metabolic diseases) | Hereditary illness associated with developmental delay |
| Family member died young or unexpectedly | May suggest inborn error of metabolism or storage disease |
| Family member requires special education | Hereditary causes of developmental delay |
| SOCIAL HISTORY | |
| Resources available (e.g., financial, social support) | Necessary to maximize child’s potential |
| Educational level of parents | Family may need help to provide stimulation |
| Mental health problems | May exacerbate child’s conditions |
| High-risk behaviors (e.g., illicit drugs, sex) | Increased risk for HIV infection; index of caregiving risk |
| Other stressors (e.g., marital discord) | May exacerbate child’s conditions or compromise care |
| OTHER HISTORY | |
| Gender of child | Important for X-linked conditions |
| Developmental milestones | Index of developmental delay; regression may indicate progressive condition. |
| Head injury | Even moderate trauma may be associated with developmental delay or learning disabilities. |
| Serious infections (e.g., meningitis) | May be associated with developmental delay |
| Toxic exposure (e.g., lead) | May be associated with developmental delay |
| Physical growth | May indicate malnutrition; obesity, short stature, genetic syndrome |
| Recurrent otitis media | Associated with hearing loss and abnormal speech development |
| Visual and auditory functioning | Sensitive index of impaired vision and hearing |
| Nutrition | Malnutrition during infancy may lead to delayed development. |
| Chronic conditions such as renal disease | May be associated with delayed development or anemia |
| ITEM | POSSIBLE SIGNIFICANCE |
|---|---|
| General appearance | May indicate significant delay in development or obvious syndrome |
| STATURE | |
| Short stature | Williams syndrome, malnutrition, Turner syndrome; many children with severe retardation have associated short stature. |
| Obesity | Prader-Willi syndrome |
| Large stature | Sotos syndrome |
| HEAD | |
| Macrocephaly | Alexander syndrome, Sotos syndrome, gangliosidosis, hydrocephalus, mucopolysaccharidosis, subdural effusion |
| Microcephaly | Virtually any condition that can retard brain growth (e.g., malnutrition, Angelman syndrome, de Lange syndrome, fetal alcohol effects) |
| FACE | |
| Coarse, triangular, round, or flat face; hypotelorism or hypertelorism, slanted or short palpebral fissure; unusual nose, maxilla, and mandible | Specific measurements may provide clues to inherited, metabolic, or other diseases such as fetal alcohol syndrome, cri du chat syndrome (5p-syndrome), or Williams syndrome. |
| EYES | |
| Prominent | Crouzon syndrome, Seckel syndrome, fragile X syndrome |
| Cataract | Galactosemia, Lowe syndrome, prenatal rubella, hypothyroidism |
| Cherry-red spot in macula | Gangliosidosis (GM 1 ), metachromatic leukodystrophy, mucolipidosis, Tay-Sachs disease, Niemann-Pick disease, Farber lipogranulomatosis, sialidosis III |
| Chorioretinitis | Congenital infection with cytomegalovirus, toxoplasmosis, or rubella |
| Corneal cloudiness | Mucopolysaccharidosis I and II, Lowe syndrome, congenital syphilis |
| EARS | |
| Pinnae, low set or malformed | Trisomies such as 18, Rubinstein-Taybi syndrome, Down syndrome, CHARGE association, cerebro-oculo-facio-skeletal syndrome, fetal phenytoin effects |
| Hearing | Loss of acuity in mucopolysaccharidosis; hyperacusis in many encephalopathies |
| HEART | |
| Structural anomaly or hypertrophy | CHARGE association, CATCH-22, velocardiofacial syndrome, glycogenosis II, fetal alcohol effects, mucopolysaccharidosis I; chromosomal anomalies such as Down syndrome; maternal phenylketonuria; chronic cyanosis may impair cognitive development. |
| LIVER | |
| Hepatomegaly | Fructose intolerance, galactosemia, glycogenosis types I to IV, mucopolysaccharidosis I and II, Niemann-Pick disease, Tay-Sachs disease, Zellweger syndrome, Gaucher disease, ceroid lipofuscinosis, gangliosidosis |
| GENITALIA | |
| Macro-orchidism (usually not noted until puberty) | Fragile X syndrome |
| Hypogenitalism | Prader-Willi syndrome, Klinefelter syndrome, CHARGE association |
| EXTREMITIES | |
| Hands, feet, dermatoglyphics, and creases | May indicate specific entity such as Rubinstein-Taybi syndrome or be associated with chromosomal anomaly |
| Joint contractures | Sign of muscle imbalance around joints (e.g., with meningomyelocele, cerebral palsy, arthrogryposis, muscular dystrophy; also occurs with cartilaginous problems such as mucopolysaccharidosis) |
| SKIN | |
| Café-au-lait spots | Neurofibromatosis, tuberous sclerosis, Bloom syndrome |
| Eczema | Phenylketonuria, histiocytosis |
| Hemangiomas and telangiectasia | Sturge-Weber syndrome, Bloom syndrome, ataxia-telangiectasia |
| Hypopigmented macules, streaks, adenoma sebaceum | Tuberous sclerosis, hypomelanosis of Ito |
| HAIR | |
| Hirsutism | de Lange syndrome, mucopolysaccharidosis, fetal phenytoin effects, cerebro-oculo-facio-skeletal syndrome, trisomy 18 syndrome |
| NEUROLOGICAL | |
| Asymmetry of strength and tone | Focal lesion, cerebral palsy |
| Hypotonia | Prader-Willi syndrome, Down syndrome, Angelman syndrome, gangliosidosis, early cerebral palsy |
| Hypertonia | Neurodegenerative conditions involving white matter, cerebral palsy, trisomy 18 syndrome |
| Ataxia | Ataxia-telangiectasia, metachromatic leukodystrophy, Angelman syndrome |
Motor Assessment
The comprehensive neurological examination is an excellent basis for evaluating motor function, but it should be supplemented by an adaptive functional evaluation (see Chapter 179 ). Observing the child at play aids assessment of function. Specialists in early childhood development and therapists (especially occupational and physical therapists who have experience with children) can provide excellent input into the evaluation of age-appropriate adaptive function.
Psychological Assessment
Psychological assessment includes the testing of cognitive ability ( Table 10.3 ) and the evaluation of personality and emotional well-being. The IQ and mental age scores, taken in isolation, are only partially descriptive of a person’s functional abilities, which are a combination of cognitive, adaptive, and social skills. Tests of achievement are subject to variability based on culture, educational exposures, and experience and must be standardized for social factors. Projective and nonprojective tests are useful in understanding the child’s emotional status. Although a child should not be labeled as having a problem solely on the basis of a standardized test, these tests provide important and reasonably objective data for evaluating a child’s progress within a particular educational program.
Educational Assessment
Educational assessment involves the evaluation of areas of specific strengths and weaknesses in reading, spelling, written expression, and mathematical skills. Schools routinely screen children with grouped tests to aid in problem identification and program evaluation. For the child with special needs, this screening ultimately should lead to individualized testing and the development of an IEP that would enable the child to progress comfortably in school. Diagnostic teaching, in which the child’s response to various teaching techniques is assessed, also may be helpful.
Social Environment Assessment
Assessments of the environment in which the child is living, working, playing, and growing are important in understanding the child’s development. A home visit by a social worker, community health nurse, and/or home-based intervention specialist can provide valuable information about the child’s social milieu. Often, the home visitor can suggest additional adaptive equipment or renovations if there are challenges at home. If there is a suspicion of inadequate parenting, and, especially, if there is a suspicion of neglect or abuse (including emotional abuse), the child and family must be referred to the local child protection agency. Information about reporting hotlines and local child protection agencies usually is found inside the front cover of local telephone directories (see Chapter 22 ).
Management of Developmental Problems
Intervention in the Primary Care Setting
The clinician must decide whether a problem requires referral for further diagnostic work-up and management or whether management in the primary care setting is appropriate. Counseling roles required in caring for these children are listed in Table 10.4 . When a child is young, much of the counseling interaction takes place between the parents and the clinician, and, as the child matures, direct counseling shifts increasingly toward the child.
