ALTERNATE NAMES

Autosomal Dominant Intellectual Disability 5; MRD5; Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia and Autism; SYNGAP1-related Non-syndromic Intellectual Disability; SYNGAP1 Syndrome

DESCRIPTION

SYNGAP1-related NSID is a condition that primarily affects the central nervous system. This condition is caused by changes (mutations) in the SYNGAP1 gene. Almost all reported cases are due to de novo mutations; however, the condition can be passed down to future generations in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each individual.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:Genetic testing is the only way to confirm a diagnosis of SYNGAP1-related NSID. However, an electroencephalogram (EEG) may be used to support the diagnosis.

Physical findings:

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  Epileptic encephalopathy;

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  Microcephaly (abnormally small head);

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  Torticollis (wryneck);

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  Moderate to severe intellectual disability;

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  Seizures;

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  Autism spectrum disorder;

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  Loss of developmental milestones;

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  Generalized hypotonia (decreased muscle tone)

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  Global developmental delay;

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  Language impairment; and

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  Motor delay.

ICD-9: 318.1

ICD-10: F72

PROGRESSION

Individuals with SYNGAP1-related NSID continue to develop, progressing at their own pace. Unless their epilepsy is not well controlled, they do not regress or deteriorate and can always continue to learn.

TREATMENT

Occupational therapy (OT), physical therapy (PT), and speech therapies to maximize developmental potential. Therapy is purely supportive.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Genetic testing;

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  EEG results;

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  Brain magnetic resonanced imaging (MRI) results; and

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  Neuropsychological testing documenting intellectual disability.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

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