Developmental Disabilities
Developmental Disabilities: Excerpt from The 5-Minute Pediatric Consult
Rita Panoscha, MD
Developmental Disabilities - BASICS
Developmental Disabilities - description
- Developmental delay is a descriptive term, not a specific diagnosis, comprising many disorders and encompassing a broad category of etiologies.
- The term describes any situation where a child is not meeting age-appropriate milestones as expected in 1 or more streams of development. These streams of development include gross motor, fine motor, receptive and expressive language, adaptive, and social.
- The key feature is that the rate of progress has been slow over time in the area(s) of delay.
- Children with behavioral problems may also be masking developmental delays.
- Children with delays in one stream of development may also have delays in other areas of development. For example, language delay may be an indication of general cognitive delays.
- Hearing impairment may present as a delay in development.
Developmental Disabilities - general prevention
There is no known prevention of developmental delays, although prevention of some of the underlying causes is possible.
Developmental Disabilities - epidemiology
Found in both sexes and all racial and socioeconomic groups.
Developmental Disabilities - prevalence
This is a heterogeneous group of disorders with different prevalence rates.
Developmental Disabilities - pathophysiology
- This is highly variable depending on etiology, which can include genetic, familial, metabolic, infectious, endocrinologic, traumatic, anatomic brain malformations, environmental toxins, and degenerative disorders as causes. These disorders often result in some neurologic or neuromuscular injury causing the delay. In many cases, the etiology is never determined.
- Prevalence of this group of disorders may vary depending on how inclusive the definition. The milder delays are quite common and can be found in any pediatric practice. Some disorders in this grouping are more prevalent in boys. The long-term outcome depends on the severity and type of delay, with the more involved children usually having lifelong disability.
Developmental Disabilities - etiology
Specific etiologies are too numerous to list completely but a partial list of the more common causes includes:
- Genetic/familial:
- Fragile X syndrome
- Trisomy 21 (Down syndrome)
- Other chromosomal abnormalities
- Tuberous sclerosis
- Neurofibromatosis
- Phenylketonuria
- Muscular dystrophy
- Nervous system anomalies:
- Hydrocephalus
- Lissencephaly
- Spina bifida
- Seizures
- Infections:
- Prenatal cytomegalovirus
- Rubella
- Toxoplasmosis
- HIV
- Postnatal bacterial meningitis
- Neonatal herpes simplex
- Endocrinologic:
- Congenital hypothyroidism
- Environment:
- Heavy metal poisoning such as lead
- In utero drug or alcohol exposure
- Trauma/injury:
- Closed head trauma
- Asphyxia
- Stroke
- Perinatal cerebral hemorrhages
Developmental Disabilities - associated conditions
- There are numerous associated findings including, seizures, sensory impairments, feeding disorders, psychiatric disorders (especially depression), and behavioral disorders
- Having a child with significant developmental delays also can add stress to the family in terms of time, finances, and emotions.
Developmental Disabilities - DIAGNOSIS
Developmental Disabilities - signs & symptoms
Developmental Disabilities - history
A complete and detailed history is needed, including:
- Pregnancy history:
- Maternal age and parity
- Maternal complications (including infections and exposures)
- Medications/drugs used
- Tobacco or alcohol used, along with quantities
- Fetal activity
- Birth history:
- Gestational age
- Birth weight
- Route of delivery
- Maternal or fetal complications/distress
- Apgar scores
- General health:
- Significant illnesses, hospitalizations, or surgeries
- Accidents or injuries
- Hearing and vision status
- Medications used
- Known exposures to toxins
- Any new or unusual symptoms
- Developmental history:
- Current developmental achievement in each stream of development
- Age when developmental milestones were achieved
- Any loss of skills
- Where parents think their child is functioning developmentally
- Educational history:
- Type of schooling and services received, if any
- Any previous educational/developmental testing
- Behavioral history:
- Any perseverative or stereotypical behaviors
- Interaction skills
- Attention and activity level
- Family history:
- Anyone with developmental delays, neurologic disorders, syndromes, consanguinity
Developmental Disabilities - physical exam
A complete physical examination including growth perimeters is needed looking for etiology.
- Key features to include:
- Observation of interactions and behavior: Any atypical behaviors and general impression
- Head circumference: Looking for macrocephaly or microcephaly
- Skin exam: Looking for neurocutaneous lesions
- Major or minor dysmorphic features: Any indication of a syndrome or anatomic malformation
- Neurologic examination: Looking for cranial nerve deficits, neuromuscular status, reflexes, balance and coordination, and any soft signs
- Developmental testing: Although considerable information will already be available on history and observation, a more formal developmental screening or testing should be done. Possible office tests would be the Ages & Stages Questionaires, Denver-II Developmental Screening Test, the CAT/CLAMS, or the ELM. The latter test is basically for language screening. Referral to a specialist or a multidisciplinary team for more detailed testing is indicated when delay is suspected.
Developmental Disabilities - tests
Developmental Disabilities - lab
There is no specific laboratory test battery for general developmental delays. The testing needs to be tailored to the individual situation based on the history and physical examination. A high index of suspicion should be maintained for any associated findings and delays in the other streams of development.
- Some of the more common studies ordered for developmental delay workup:
- Genetic testing: Warranted for any dysmorphic features, a family history of delays or genetic disorder. A karyotype and fragile X DNA should be considered, particularly for significant cognitive delays.
- Metabolic tests: Tests such as quantitative plasma amino acids, quantitative urine organic acids, lactate, pyruvate or ammonia should be considered if there is any loss of skills or indication of a metabolic disorder.
- Thyroid function tests: Most infants will have had screening for hypothyroidism shortly after birth. This should be rechecked if symptoms indicate.
Developmental Disabilities - imaging
Head MRI: Consider a head MRI for head abnormalities, significant neurologic findings, loss of skills, or for workup of a specific disorder such as trauma or leukodystrophy.
Developmental Disabilities - diag proced-surgery
- Audiologic: Hearing should be checked in any child with speech and language and/or cognitive delays.
- EEG: An EEG should be considered if there is any concern about seizures.
- Subspecialists: Referral to other medical specialists may also be indicated. These specialists may include developmental pediatrics, neurology, genetics, orthopedics, or ophthalmology.
Developmental Disabilities - differencial diagnosis
- The differential can be extensive and may become more evident with further workup.
- Broad diagnoses include:
- Mental retardation
- Developmental language disorder
- Autism
- Learning disability
- Cerebral palsy
- Attention deficit hyperactivity disorder
- Significant visual or hearing impairment
- Degenerative disorders
Developmental Disabilities - TREATMENT
Developmental Disabilities - general measures
- Therapy should include appropriately treating any medical conditions and associated findings, for example, anticonvulsants for seizures or hearing aids when appropriate for hearing impairment. In addition, traditional therapy has included early intervention or special education services specifically addressing the areas of delay.
- Therapy could include physical therapists, occupational therapists, speech/language therapists, special educators, psychologists, and audiologists, depending on the needs of the child.
Developmental Disabilities - FOLLOW UP
Developmental Disabilities - prognosis
Variable depending on the type and severity of delay and the etiology.
Developmental Disabilities - patient monitoring
- General pediatric care for well child visits and to monitor any underlying medical conditions is indicated.
- These children need ongoing monitoring of their therapy and educational programs to ensure that it is still meeting their individual needs, as these needs change over time.
- The families will also need ongoing counseling and support in dealing with a child having special needs.
Developmental Disabilities - bibliography
- Battaglia A, Carey JC. Diagnostic evaluation of developmental delay/mental retardation: An overview. Am J Med Genet C Semin Med Genet. 2003;117C(Feb 15):3–14.
- Council on Children With Disabilities. Identifying infants and young children with developmental disorders in the medical home: An algorithm for developmental surveillance and screening. Pediatrics. 2006;118:405–420.
- Feldman HM. Evaluation and management of language and speech disorders in preschool children. Pediatr Rev. 2005;26:131–140.
- Gilbride KE. Developmental testing. Pediatr Rev. 1995;16:338–345.
- Johnson CP, Blasco PA. Infant growth and development. Pediatr Rev. 1997;18:224–242.
- Levy SE, Hyman SL. Pediatric assessment of the child with developmental delay. Pediatr Clin North Am. 1993;40:465–477.
- Liptak GS. The pediatrician’s role in caring for the developmentally disabled child. Pediatr Rev. 1996;17:203–210.
- Mendola P, Selevan SG, Gutter S, et al. Environmental factors associated with a spectrum of neurodevelopmental deficits. Ment Retard Dev Disabil Res Rev. 2002;8(3):188–197.
- Moeschler JB, Shevell M, Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006;117:2304–2316.
- Simms MD, Shum RL. Preschool children who have atypical patterns of development. Pediatr Rev. 2000;21:147–158.
Developmental Disabilities - CODES
Developmental Disabilities - icd9
315.9 Unspecified delay in development (developmental disorder not otherwise specified)
Developmental Disabilities - FAQ
- Q: When do you test a child for delays?
- A: A child can have developmental assessments at any age, including infancy. Making a specific diagnosis, for example, for level of mental retardation may need to wait until the child is older.
- Q: When can a child start receiving services?
- A: Children who qualify can receive therapy services starting at birth and in some cases extending up to age 21 years.
- Q: The parents are raising a concern about delays, but the general impression in the office is that the child is doing okay. What should be done next?
- A: Parents or grandparents may be the 1st to express concerns, especially in a child with milder delays. A more detailed developmental history and more formal developmental screening or testing would be indicated as an initial step.
Book Source Details
- Book Title: The 5-Minute Pediatric Consult
- Author(s): M. William Schwartz MD; et al.
- Year of Publication: 2008
- Copyright Details: The 5-Minute Pediatric Consult, Copyright © 2008 Lippincott Williams & Wilkins.
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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More About This Book:
Title: The 5-Minute Pediatric Consult
Authors: M. William Schwartz MD; et al.
Publisher: Lippincott Williams & Wilkins
Copyright: 2008
ISBN: 0-7817-7577-9
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