PRIMARY CARE
Recommendation 1
Early intervention for mental and developmental concerns
15q13.3 microdeletion syndrome
Not Verified
Disease overview
Random or autosomal dominant disorder caused by deletion of at least 7 genes on long arm of chromosome 15 causing mental and physical development deficits
Common symptoms
Mental development deficits (mild to moderate intellectual disabilitieslearning delaysor normal intelligenceautism spectrum disordersand mental illness such as schizophrenia or bipolar disorder) and physical development deficits (Epilepsy and variousnon-consistent dysmorphic physical features)
WHEN TO SUSPECT
Recommendation 1
Genetic testing (FISH), multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridization (aCGH).
HOW TO TEST
Recommendation 1
Genetic testing (FISH), multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridization (aCGH).
TREATMENT
Recommendation 1
Epilepsy is treated with anti-seizure medication (ASM).
FURTHER SUPPORT
Recommendation 1
No specific physician specializes in this condition but NORD recommends doctors who specialize in epilepsy. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
CLINICAL TRIALS
Recommendation 1
Clinical trials currently recruiting
Sources
No data available
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