There is broad clinical variability in the severity of Rett syndrome, including a milder variant of Rett syndrome.  Infant girls with Angelman syndrome having seizures and severe speech impairment can resemble girls with Rett syndrome.

Infantile spasms involve momentary flexion of the neck, trunk, or extremities, onsetting within the first year of life and subsiding during late infancy.  Affected children may develop other seizures and have severe developmental delays.  West syndrome is the triad of infantile spasms, hypsarrhythmia, and severe mental retardation.  Early onset and congenital forms of Rett syndrome include infantile spasms or early-onset epileptic seizures.

We are excited that we have shorter turn-around-times for the following tests:

Our lab is now performing methylation-specific (MS) MLPA for Angelman and Prader-Willi syndromes.  This testing will identify patients with abnormal methylation, large deletions and imprinting center deletions.  Those patients with abnormal methylation, but no deletion, should pursue UPD testing for UPD15.  Angelman syndrome patients with normal methylation should consider sequencing for UBE3A.  This testing eliminates the need for additional FISH testing or imprinting center testing for these patients.

We are now offering full gene sequencing of the five known genes for autosomal recessive primary microcephaly (MCPH).  Autosomal recessive primary microcephaly (MCPH) is characterized by congenital microcephaly, mental retardation (but no other neurological findings), normal or mildly short stature, and normal weight and appearance.  Mutations in the ASPM gene are the most common cause of MCPH.  Approximately 40% of patients (both consanguineous and non-consanguineous) with a strict diagnosis of MCPH have mutations in ASPM.  A small number of families with MCPH have been r