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| Developmental Disabilities | ||
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Rita Panoscha
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Database Differential Diagnosis Data Gathering Physical Examination Laboratory Aids Therapy Follow-Up Common Questions and Answers Bibliography |
| DATABASE | ||
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DEFINITION
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 one 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.
PATHOPHYSIOLOGY
This is highly variable depending on etiology, which can include genetic, familial, metabolical, infectious, endocrinological, traumatic, anatomic brain malformations, environmental toxins and degenerative disorders as causes. These disorders often result in some neurological or neuromuscular injury causing the delay. In many cases 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 severe children usually having lifelong disability.
ASSOCIATED FINDINGS
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.
| DIFFERENTIAL DIAGNOSIS | ||
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The differential can be extensive and may become more evident with additional work-up. Broad diagnoses include:
Specific etiologies are too numerous to list completely but a partial list of the more common causes would include:
HINTS FOR SCREENING PROBLEMS
| DATA GATHERING | ||
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HISTORY
Pregnancy History
Question: Maternal age and parity?
Significance: Chromosomal defect associated with older age groups.
Question: Maternal complications?
Significance: May contribute to malformations on prematurity.
Question: Infections and exposures?
Significance: Congenital infection torches.
Question: Medications/drugs used?
Significance: Defects related to seizure medications.
Question: Tobacco or alcohol used, along with quantities?
Significance: Increased prematurity and malformations.
Question: Fetal activity?
Significance: Decreased fetal activity associated with neuromuscular disease.
Birth History
Question: Gestational age?
Significance: Prematurity associated with developmental delay.
Question: Birth weight?
Significance: Increased developmental delay in low birth weight.
Question: Route of delivery?
Significance: CNS injury incurred in breech and difficult deliveries.
Question: Maternal or fetal complications/distress?
Significance: Herpes association with CNS damage.
Question: Apgar scores?
Significance: 5 minute Apgar <5 is correlated with developmental delays.
General Health
Developmental History
Educational History
Behavioral History
Familial History
| PHYSICAL EXAMINATION | ||
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A complete physical examination including growth perimeters is needed looking for etiology.
Look for cranial nerve deficits, neuromuscular status, reflexes, balance and coordination and any soft signs.
| LABORATORY AIDS | ||
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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. Listed below are some of the more common studies ordered for developmental delay work up.
Test: Developmental testing
finding: Although considerable information will already be available on history and observation, a more formal developmental screening or testing should be done.
Test: Possible office tests would be the Denver Developmental Screening Test, the CAT/CLAMS or the ELM.
Significance: The latter test is basically for language screening.
Test: Hearing
Significance: Should be checked in any child with speech and language and/or cognitive delays.
Test: Genetic testing
Significance: Warranted for any dysmorphic features or a familial history of delays or genetic disorder. A karyotype and Fragile X DNA should be considered particularly for significant cognitive delays.
Test: Metabolic tests
Significance: Quantitative plasma amino acids, quantitative urine organic acids, lactate, pyruvateor ammonia should be considered if there is any loss of skills or indication of a metabolic disorder.
Test: Hypothyroidism
Significance: Most infants have screening for hypothyroidism shortly after birth. This should be rechecked if symptoms indicate.
Test: EEG
Significance: Consider if there is any concern about seizures.
Test: Head MRI
Significance: Consider for head abnormalities, significant neurological findings, loss of skills or for work up of a specific disorder such as trauma or leukodystrophy.
Referral to other medical specialists may also be indicated. These specialists may include developmental pediatrics, neurology, genetics, orthopedics, or ophthalmology.
| THERAPY | ||
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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.
REFERRAL
Referral to a specialist or a multidisciplinary team for more detailed testing would be indicated when delay is suspected.
| FOLLOW-UP | ||
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General pediatric care for well child visits and to monitor any underlying medical conditions is indicated. In addition, these children need ongoing monitoring of their therapy and educational programs to assure 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.
| COMMON QUESTIONS AND ANSWERS | ||
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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, 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 he or she is doing okay. What should be done next?
A: Parents or grandparents may be the first 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.
ICD-9-CM 315.9
| BIBLIOGRAPHY | ||
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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.
Copyright © 2000 Lippincott Williams & Wilkins
M. William Schwartz, Louis M. Bell, Jr., Peter M. Bingham, Esther K. Chung, David F. Friedman and Andrew E. Mulberg, The 5 Minute Pediatric Consult