Chromosomal microarray testing influences medical management.

Purpose: Chromosomal microarray (CMA) testing provides the highest diagnostic yield for clinical testing of patients with developmental delay (DD), intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). Despite improved diagnostic yield and studies to support cost-effectiveness, concerns regarding the cost and reimbursement for CMA have been raised because it is perceived that CMA results do not influence medical management.

Methods: We conducted a retrospective chart review of CMA testing performed during a 12-month period on patients with DD/ID, ASD, and congenital anomalies to determine the proportion of cases where abnormal CMA results impacted recommendations for clinical action.

Clinical genetic testing for patients with autism spectrum disorders.

Background: Multiple lines of evidence indicate a strong genetic contribution to autism spectrum disorders (ASDs). Current guidelines for clinical genetic testing recommend a G-banded karyotype to detect chromosomal abnormalities and fragile X DNA testing, but guidelines for chromosomal microarray analysis have not been established.

Patients And Methods: A cohort of 933 patients received clinical genetic testing for a diagnosis of ASD between January 2006 and December 2008.

Coupling of cell migration with neurogenesis by proneural bHLH factors.

After cell birth, almost all neurons in the mammalian central nervous system migrate. It is unclear whether and how cell migration is coupled with neurogenesis. Here we report that proneural basic helix-loop-helix (bHLH) transcription factors not only initiate neuronal differentiation but also potentiate cell migration.

Extracellular factors that regulate neuronal migration in the central nervous system.

Neuronal migration is an essential process in the development of the central nervous system (CNS). The movement of neuronal precursors from their birthplaces to their ultimate position in the adult brain is regulated by extrinsic and intrinsic signals. The understanding of the extracellular factors that regulate neuronal migration has increased significantly in the last few years.