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| Williams syndrome |
Williams syndrome is an unusual multisystem neurodevelopmental disorder typified by characteristic craniofacial features, mild microcephaly, mild to moderate mental retardation with a distinctive cognitive-behavioral profile, connective tissue abnormalities, growth retardation, supravalvular aortic stenosis, peripheral pulmonary stenosis, renal artery stenosis, limited joint movement and transient hypercalcemia. Its occurrence is sporadic, although familial autosomal dominant cases have been infrequently reported.
The pattern of occurrence is nearly always sporadic and observed in both sexes, although there are several reported cases of familial transmission as an autosomal dominant mutation. The phenotypic expression is somewhat varied and associated with a hemizygous microdeletion of 114-250 kb in the 7q11.23 region which includes the elastin (ELN) and LIM-kinase (LIMK) gene.
SIGNS AND SYMPTOMS:
•The signs and symptoms observed in the classic case of WS may be diagnostic but the clinical presentation is somewhat varied
•Early childhood: Global developmental delay albeit with seemingly normal speech and expressive language
•Hyperacusis
•Characteristic craniofacial features
•Elfin-like facial appearance
•Medial eyebrow flare and stellate irises
•Wide mouth
•Long flat philtrum
•Upturned nose with a flat nasal bridge
•Dental anomalies
•Mild microcephaly
•Characteristic clinical features
•Supravalvar aortic stenosis
•Peripheral pulmonary stenosis
•Renal artery stenosis
•Infantile hypercalcemia
•Growth retardation and short stature
•Slender limbs and trunk
•Characteristic cognitive/behavioral features
•Weakness in abstract/visual reasoning
•Highly developed expressive language skills
•Low levels of daily living skills
•Postpubertal males and females
•Characteristic clinical features
•Hypertension
•Lordosis and/or limited joint movement
•Characteristic behavioral features
•Anxiety
•Depression and suicidal ideation
CAUSES:
Microdeletion in the 7q11.23 region
Laboratory Diagnosis:
Molecular-genetic (DNA) evaluation is the diagnostic test of choice and can determine the size of the deletion
SPECIAL TESTS:
Affected individuals require cognitive, behavioral, psychological and educational evaluations to develop individual education programs
TREATMENT
APPROPRIATE HEALTH CARE:
Affected individuals will generally need life-long adult supervision. Early intensive educational intervention and behavior modification should be implemented.
GENERAL MEASURES:
•Early detection will permit early intervention and intensive behavioral training
•Treatment for hypercalcemia by controlling dietary intake of calcium and vitamin D
•Ophthalmological evaluations are recommended for visual acuity
•Preventive dentistry to reduce risk of malocclusion
•Continual monitoring of cardiovascular anomalies and for hypertension
•Filtered ear protection for hyperacusis
SURGICAL MEASURES:
Treatment for aortic, pulmonary or renal artery stenoses if needed
DIET:
For hypercalcemia, control intake of calcium and vitamin D
MEDICATIONS
DRUG(S) OF CHOICE:
Medication for hypertension and for hyperparathyroidism.
PREVENTION/AVOIDANCE:
Genetic counseling and evaluation, especially among high-functioning patients, about pregnancies. Prenatal diagnosis is available.
POSSIBLE COMPLICATIONS:
•Learning problems, especially in abstract/visual reasoning
•Behavioral problems concerning indifference to personal safety
•Post-pubescent anxiety and depression
•Risk of cardiovascular disease and/or renal dysfunction
MISCELLANEOUS
ASSOCIATED CONDITIONS:
•Developmental delay
•Growth retardation
•Cardiovascular dysfunction
•Renal dysfunction
•Attention deficit disorder (ADD)
•Frequently associated with neuropsychological dysfunction
•Treatment for ADD is similar to methods used in the general population
PREGNANCY:
Patient and family should receive genetic evaluation and counseling as prenatal diagnosis is available
SYNONYMS:
•Williams-Beuren syndrome
•Fanconi type idiopathic infantile hypercalcemia
•Elfin facies syndrome
REFERENCES
•Anderson PE, Rourke BP: Williams Syndrome. In: White BP (ed): Syndrome of Nonverbal Learning Disabilities. New York, Guilford Press, 1995
•Bellugi U, Wang PP, Jernigan TL: Williams Syndrome: An Unusual Neuropsychological Profile. In Broman SH, Grafman J (eds.) Atypical Cognitive Deficits in Developmental Disorders: Implication for Brain Function. Hillsdale NJ, Lawrence Earlbaum Associates, 1994 |
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Really I appreciate the effort you made to share the knowledge. The topic here I found was really effective to the topic which I was researching for a long time.