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Identification of neurotransmitter imbalance in Tourette Syndrome offers new treatment hope

Identification of neurotransmitter imbalance in Tourette Syndrome offers new treatment hope

Recent research, published yesterday, has identified a chemical transmitter in the brain that plays a vital role in Tourette Syndrome. This latest finding presents the potential for developing targeted, and therefore more effective, treatments to suppress the distressing symptoms of Tourette Syndrome. [More]
Changes in ADNP gene may provide further insight into causes of autism

Changes in ADNP gene may provide further insight into causes of autism

A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of Medical Genetics, presents findings that likely represent a definitive clinical marker for some patients' developmental disabilities. [More]
Brains of autistic kids are relatively inflexible at switching from rest to task performance

Brains of autistic kids are relatively inflexible at switching from rest to task performance

The brains of children with autism are relatively inflexible at switching from rest to task performance, according to a new brain-imaging study from the Stanford University School of Medicine. [More]
Computer analysis of family photos could help diagnose rare genetic disorders

Computer analysis of family photos could help diagnose rare genetic disorders

Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say Oxford University researchers. [More]
Exposure to elevated levels of steroid hormones in the womb linked to later development of autism

Exposure to elevated levels of steroid hormones in the womb linked to later development of autism

Scientists from the University of Cambridge and the Statens Serum Institute in Copenhagen, Denmark have discovered that children who later develop autism are exposed to elevated levels of steroid hormones (for example testosterone, progesterone and cortisol) in the womb. The finding may help explain why autism is more common in males than females, but should not be used to screen for the condition. [More]
Mutations in gene associated with leukaemia may affect growth, intellectual development in children

Mutations in gene associated with leukaemia may affect growth, intellectual development in children

Mutations in a gene associated with leukaemia cause a newly described condition that affects growth and intellectual development in children, new research reports. [More]

Prevalence unchanged when ASD combined with new social communication disorder, say researchers

A new study finds that the estimated prevalence of autism under the new DSM-5 criteria would decrease only to the extent that some children would receive the new diagnosis of social communication disorder (SCD). [More]
Asparagine found in meat, eggs and dairy products is important for normal brain development

Asparagine found in meat, eggs and dairy products is important for normal brain development

Asparagine, found in foods such as meat, eggs, and dairy products, was until now considered non-essential because it is produced naturally by the body. Researchers at the University of Montreal and its affiliated CHU Sainte-Justine Hospital found that the amino acid is essential for normal brain development. [More]
Genetic mutation found to restore translational balance in mice

Genetic mutation found to restore translational balance in mice

In a biological quirk that promises to provide researchers with a new approach for studying and potentially treating Fragile X syndrome, scientists at the University of Massachusetts Medical School (UMMS) have shown that knocking out a gene important for messenger RNA (mRNA) translation in neurons restores memory deficits and reduces behavioral symptoms in a mouse model of a prevalent human neurological disease. [More]
Scientists identify recessive gene mutation that reduces certain protein affecting brain development

Scientists identify recessive gene mutation that reduces certain protein affecting brain development

Though worlds apart, four unrelated families have been united in a medical mystery over the source of a rare inherited disorder that results in their children being born with abnormal brain growth and severe functional impairments. [More]
Edimer doses first XLHED-affected neonate in Phase 2 trial of EDI200

Edimer doses first XLHED-affected neonate in Phase 2 trial of EDI200

Edimer Pharmaceuticals, a biotechnology company focused on developing an innovative therapy for the rare genetic disorder X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), today announced the enrollment and completed dosing of the first XLHED-affected neonate in a Phase 2 trial of EDI200, the company's novel, proprietary, recombinant protein. [More]

ReAttach therapy can be effective treatment for people with autism

"ReAttach" is a new intervention, based on "attachment". Practical research has pointed out that the "ReAttach therapy" can be of great importance for people with autism. This is concluded from the continuous practical research of Paula Bartholomeus into the advantages that can be reached for people with Asperger's syndrome, PDD-NOS, autism spectrum disorder, or with a mental disability and autism, using the ReAttach therapy. [More]
Individuals diagnosed with ASD more likely to have gene deletions, shows analysis

Individuals diagnosed with ASD more likely to have gene deletions, shows analysis

Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (ASD) were more likely to have gene deletions than were people without the disorder. [More]
NJIT student team to develop innovative interactive toys for autistic children

NJIT student team to develop innovative interactive toys for autistic children

NJIT Distinguished Professor Atam P. Dhawan, PhD, recently joined the autism community at the NJ State House to be recognized for improving public and private autism services. [More]
Argininosuccinic aciduria (ASA) and gene therapy: an interview with Dr Julien Baruteau, UCL Institute for Women's Health, London

Argininosuccinic aciduria (ASA) and gene therapy: an interview with Dr Julien Baruteau, UCL Institute for Women's Health, London

This rare genetic condition can theoretically affect patients at any age but symptoms are more often observed in childhood and even uncommonly during the first days of life. [More]
Genome sequencing promises to identify rare mutations that give rise to autism

Genome sequencing promises to identify rare mutations that give rise to autism

An international consortium, consisting of Autism Speaks, Duke University School of Medicine, The Hospital for Sick Children of Toronto, BGI and other institutes, has investigated the genetic variants in 32 families with Autism Spectrum Disorder (ASD). [More]
Scientists focus on the role of mutated adult neural stem cells play in human diseases

Scientists focus on the role of mutated adult neural stem cells play in human diseases

CHARGE syndrome* is a severe developmental disorder affecting multiple organs. It affects 1 in 8500 newborns worldwide. The majority of patients carry a mutation in a gene called CHD7. How this single mutation leads to the broad spectrum of characteristic CHARGE symptoms has been a mystery. [More]
Bone tumor identified in the rib of 120,000-year-old Neandertal

Bone tumor identified in the rib of 120,000-year-old Neandertal

The first-known definitive case of a benign bone tumor has been discovered in the rib of a young Neandertal who lived about 120,000 years ago in what is now present-day Croatia. [More]
Weekend reading: Mental illness stigma, health insurance mazes and female libido

Weekend reading: Mental illness stigma, health insurance mazes and female libido

Linneah sat at a desk at the Center for Sexual Medicine at Sheppard Pratt in the suburbs of Baltimore and filled out a questionnaire. She read briskly, making swift checks beside her selected answers, and when she was finished, she handed the pages across the desk to Martina Miller, who gave her a round of pills. [More]
Roundup: N.D. abortion clinic sues to stop new law; Health care savings close budget hole in Conn.; Calif. counties struggle to expand mental health care

Roundup: N.D. abortion clinic sues to stop new law; Health care savings close budget hole in Conn.; Calif. counties struggle to expand mental health care

The running battle over the regulation of abortions entered a North Dakota courtroom on Wednesday, as the state's sole abortion clinic sued to block a new law that it says could force it to shut down. The law, requiring doctors performing abortions to have admitting privileges at a nearby hospital, was promoted by anti-abortion legislators, who argued that it would mean better care for women who suffer medical emergencies (Eckholm, 5/15). [More]