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Rett syndrome is a progressive, neuro-developmental disorder that affects approximately 1 in 10,000 females. Classic Rett syndrome is diagnosed based on a defined set of clinical criteria and characterized by apparently normal development in the first 6-18 months, followed by an arrest in development and subsequent regression in language and motor skills. Frequent symptoms include loss of speech and purposeful hand use, stereotypic hand movements, ataxia, microcephaly, and seizures. “Atypical” Rett syndrome can be milder or more severe than typical Rett syndrome and is diagnosed when some but not all clinical criteria for Rett syndrome are present. The milder form may include mental retardation, mild learning disablilities and/or autism. Mutations in the MECP2 gene have been found to cause Rett syndrome and “atypical” Rett syndrome in females. In males, MECP2 mutations are not as common and responsible for a broad spectrum of neurodevelopmental phenotypes, ranging from severe neonatal encephalopathy to a variety of neuropsychiatric features or mild mental retardation. Rarely, males with a progressive neurodevelopmental syndrome, including mental retardation, spasticity, speech and social problems, have been found to have a duplication or triplication of the MECP2 gene.
CDKL5 mutations have been associated with X-linked mental retardation and a broad spectrum of neurological symptoms that show broad overlap with atypical Rett syndrome and Angelman syndrome. The majority of patients are females. Most patients have a severe phenotype with early-onset encephalopathy and infantile spasms, global developmental delay and mental retardation, although cases with much milder symptoms have been reported.
To assist with decisions about treatment and management of individuals with epilepsy
Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs
81404x1, 81405x2, 81406x3
315.3 Developmental speech or language disorder
345.9 Epilepsy, unspecified [0-1] Epileptic convulsions, fits, or seizures NOS Recurrent seizures NOS Seizure disorder NOS Excludes: convulsion (convulsive) disorder (780.39) convulsive seizure or fit NOS (780.39) recurrent convulsions (780.39)
299 Pervasive developmental disorders
315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
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EuroEPINOMICS-RES et al. American Journal Of Human Genetics 95 (4):360-370 (PMID: 25262651)
Lee et al. (2014) Jama 312 (18):1880-7 (PMID: 25326637)
McKnight D, Retterer K, Juusola J, Brandt T, Richard G, and Suchy S, Genetic Testing Strategies for Patients with Epilepsy and Neurodevelopmental Disorders; (Abstract #562). Presented at the 2015 ACMG Annual Clinical Genetics Meeting, March 27, 2015, Salt