© 2017, GENASSIST, Inc.
By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.
Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.
Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center
Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital
Pervasive Developmental Disorder (PDD):
Evaluation of children with a suspected diagnosis of PDD detected a significant number with a different diagnosable disorder including:
- Fragile X
- Velocardiofacial (VCF)
- Rett Syndrome
- Aspergers Syndrome
Symptoms are variable with social and play interaction and communication being difficult.
Risks to siblings may be 7-10% and there is often a history of similar symptoms in more remote relatives.
Prevalence is uncertain but is estimated to be approximately 30 per 10,000.
Childhood Disintegrative Disorder:
The genetics of this condition is unknown but often characterized by multiple episodes of regression leading to intellectual disability.
Tardive Dyskinesia Syndrome:
Is a serious movement disorder characterized by involuntary, repetitive movements of the tongue, lips, body and extremities.
Similar symptoms can occur with long term dopamine antagonist medications or medications used for treating gastrointestinal disorders (phenocopy).
Autosomal recessive inheritance has been described. 25% if both parents are carriers. Risk to siblings is 25% (1 in 4).