FDA Approves BioMarin’s Enzyme Therapy for PKU

The U.S. Food and Drug Administration approved BioMarin Pharmaceutical’s Palynziq for adult patients with phenylketonuria or PKU, a rare genetic disease that results in the inability to breakdown proteins in foods and can lead to toxic accumulations that can affect the brain. PKU is marked by an inability to break down Phe, an amino acid that is found in all forms of protein. Left untreated, high levels of Phe become toxic to the brain and […]

Caregiver Initiative For Individuals With Down Syndrome

NDSS has partnered with the Alzheimer’s Association and National Task Group on Intellectual Disabilities and Dementia Practices to author a guidebook specifically for those caring for an individual with Down syndrome diagnosed with Alzheimer’s disease. BY SARA HART WEIR For members of the Down syndrome and disability communities, caregivers play an important role in helping members of the community lead a healthy, productive and happy lives. It is not uncommon for caregivers to put the […]

This New Autism Genetics Study Could Help Explain Why It’s Such a Huge Spectrum

One disorder or several?  BY MIKE MCRAE Genes responsible for a number of autism’s characteristics come in two varieties, which could help explain not only the condition’s diversity, but also how it’s inherited. A new study on the genetics behind the disorder has revealed the kinds of mutations associated with lower IQ are also linked with impeded motor skills. What’s more, the severity of these mutations might also explain why many aspects of autism spectrum […]

Screenings Miss Signs of Autism, Especially in Girls

By Dennis Thompson MONDAY, May 21, 2018 (HealthDay News) — An important checklist used to screen for autism can miss subtle clues in some children, delaying their eventual diagnosis. Researchers found that the Modified Checklist for Autism in Toddlers, or M-CHAT, can fail to detect developmental delays that are tell-tale signs of autism in 18-month-olds, according to findings published in the June issue of the journal Pediatrics. Because of this, a small percentage of children […]

Researchers Discover Genetic Signal Common To Cerebral Palsy And Autism

University of Adelaide researchers have uncovered a genetic signal common to both cerebral palsy and autism. The finding comes from the first large-scale study of gene expression in children with cerebral palsy. The researchers, from the University’s Australian Collaborative Cerebral Palsy Research Group in the Robinson Research Institute, also showed common underlying molecular pathways in clinically diverse cerebral palsy. They say both findings add significantly to the weight of evidence for underlying genetic causes of […]

CPA athletes and sports manager selected for the CP World Games

Peter King, Manager Sport Development at Cerebral Palsy Alliance (CPA), has been named Manager of the Australian team to compete in the 2018 CPISRA CP World Games, in Sant Cugat, a town north of Barcelona, Spain, in August. CPISRA stands for Cerebral Palsy International Sports and Recreation Association and when Disability Sports Australia (DSA) announced the selection of the six athletes who will compete they said it is the largest Australian team to ever travel to […]

UC San Diego to use controversial marijuana compound to treat severe autism

BY GARY ROBINS UC San Diego will try to alleviate severe autism in children by giving them a non-psychoactive chemical found in marijuana, a project funded by the biggest private donation ever made in the U.S. for such research. The $4.7 million study involves the controversial compound cannabidiol, or CBD, which is widely marketed nationwide as something of a miracle drug, capable of treating everything from cancer to post-traumatic stress disorder. Regulators believe CBD does […]

New National Poll of Experts Shows Parents Largely Unaware of Early Warning Signs of Communication Disorders in Children

ASHA Polling Accompanied by New Public Service Announcement Aimed at Educating Parents on Warning Signs, Encouraging Early Treatment During Better Hearing & Speech Month (Rockville, Md. – May 1, 2018) Results of a new national poll released today by the American Speech-Language-Hearing Association (ASHA) for May Is Better Hearing & Speech Month show a majority of communication professionals say parents are generally not aware of the early warning signs of communication disorders—nor do they recognize […]

CDC Estimate Of Autism Prevalence Increases To 15%. Now 1 in 59 children.

CDC estimate of autism prevalence increases to 15%. Now 1 in 59 children. Autism Speaks calls on nations’ leaders to adequately fund critical research and resources NEW YORK (April 26, 2018) The Centers for Disease Control and Prevention (CDC) today released its biennial update of autism’s estimated prevalence among the nation’s children, based on an analysis of 2014 medical and/or school records of 8-year-olds from 11 monitoring sites across the United States. The report demonstrates that […]

Beyond Guardianship: Toward Alternatives That Promote Greater Self-Determination for People with Disabilities

Baltimore, MD – The National Council on Disability (NCD) – an independent federal advisory body – today will release and discuss the findings and recommendations of a seminal national report that thoroughly examines guardianship – the process through which an adult can be found legally incapable of making decisions for him or herself and another adult appointed to make decisions on behalf of that individual – in view of the estimated 1.3 million Americans subject […]