Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders
AbstractChromosome microarray analysis (CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon. We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6% (59 out of 434). This gave a detection rate of 14.7% for developmental delay/intellectual disability (DD/ID, 38/259) and 12% for autism spectrum disorders (ASDs, 21/175). Thirty-three recurrent (n ≥ 2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes (such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes). The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results (94.9%) had benefits, allowing earlier diagnosis (36/59), prioritized full clinical management (28/59), medication chan ges (7/59), a changed prognosis (30/59), and prenatal genetic counseling (15/59). Our results provide information onde novo ...
[The Conversation Africa] Healthy hearing and vision in early childhood are the foundation for success at school. Hearing and vision difficulties are the most common developmental disabilities in children younger than 5 years, with more than 40 million affected globally. But more than 90% of children with hearing or vision loss live in low and middle-income countries where services to detect problems early are unavailable.
To provide estimates of the prevalence and potential risk factors associated with pelvic organ prolapse (POP) based on Pelvic Organ Prolapse quantification (POP-Q) system and the bother it imposes in a nationwide population-based sample of adult women in China.
WASHINGTON, D.C. - The U.S. Supreme Court on Oct. 7 denied a disability claimant's petition for writ of certiorari, refusing to consider the Third Circuit U.S. Court of Appeals' finding that a district court properly remanded a claim for long-term disability (LTD) benefits to determine whether benefits are available under a plan's any-occupation standard (Thomas P. Kelly Jr. v. Reliance Standard Life Insurance Co., et al., No. 19-146, U.S. Sup.).
RIVERSIDE, Calif. - A California federal judge on Sept. 30 reversed a disability plan administrator's termination of long-term disability (LTD) benefits and ordered that the benefits be reinstated after determining that the medical evidence supports a finding that the claimant is disabled from working in any occupation (Julie Hinds v. Life Insurance Company of North America, No. 18-775, C.D. Calif., 2019 U.S. Dist. LEXIS 169478).
SALT LAKE CITY - A Utah federal judge on Sept. 24 determined that a disability claimant's long-term disability (LTD) benefits must be reinstated because the insurer's termination of benefits was arbitrary and capricious based on the lack of medical evidence to support its termination (Don Foust v. Lincoln National Life Insurance Co., No. 17-1208, D. Utah, 2019 U.S. Dist. LEXIS 164576).
ASHLAND, Ky. - A Kentucky federal judge on Sept. 24 remanded a long-term disability (LTD) claim and life insurance with waiver of premium (LWOP) claim to the disability plan administrator after determining that the administrator's termination of LTD and LWOP benefits was arbitrary and capricious (Lewis Bustetter v. Standard Insurance Co., No. 18-1, E.D. Ky., 2019 U.S. Dist. LEXIS 163075).
AKRON, Ohio - An Ohio federal judge on Sept. 11 reinstated a disability claimant's long-term disability (LTD) benefits after determining that the termination of her benefits was arbitrary and capricious because the insurer selectively reviewed the medical evidence to support its denial (Kristina Rossiter v. Life Insurance Company of North America, No. 18-1421, N.D. Ohio, 2019 U.S. Dist. LEXIS 155126).
PORTLAND, Maine - A disability insurer's termination of long-term disability (LTD) benefits based on its finding that the claimant was not disabled from performing the duties of any occupation was reasonable based on the medical evidence and was not arbitrary and capricious, a Maine federal judge said Sept. 26 (Mitchell A. Weeman v. Life Insurance Company of North America, No. 18-278, D. Me., 2019 U.S. Dist. LEXIS 165369).
WASHINGTON, D.C. - The U.S. Supreme Court on Oct. 7 refused to review the Fifth Circuit U.S. Court of Appeals' ruling in favor of a disability insurer on the insurer's interpretation of the term "regular occupation" (Juanita Nichols v. Reliance Standard Life Insurance Co., No. 19-242, U.S. Sup.).
NEW YORK - A New York federal magistrate judge on Sept. 5 recommended dismissing a former National Football League player's complaint after determining that the player failed to provide support for allegations that the NFL's retirement plan and its fiduciaries duty violated the Employee Retirement Income Security Act by refusing to reclassify players' disability benefits as football degenerative (FD) benefits despite evidence showing that the disabilities suffered by players were caused by numerous hits to the head and concussions sustained while playing in the NFL (Christopher Hudson, et al. v. National Football League Ma...