After their son Jett was diagnosed with autism, Sarah Harris and James Shilling found the local care wanting in West Virginia, where they live. They faced long waitlists for the standard autism therapy, applied behavior analysis (ABA), and local schools were either too expensive or lacked programs appropriate for their son. Harris and Shilling envied the options they found in the neighboring state of Ohio, such as ABA-centered curricula designed for children with learning and sensory differences. “I got really frustrated that we couldn’t do something like that,” Harris says. They wanted to move — but felt they could not afford to do so. Shilling’s unionized job as a truck driver was not easily transferable, and the family feared losing their health insurance.
David and Michelle Lane, who live in Kentucky, were also eyeing better care across state lines. When their son Aaron, who has autism, became aggressive as a pre-teenager, nothing they tried seemed to help. Appropriate therapy and schooling seemed elusive where they lived, Michelle recalls. So by the time Aaron was 17, the family felt they had exhausted all local options, and they decided to move. “We looked all over the whole country,” David says. In the end, they decided on Boston, Massachusetts, after friends with a daughter on the spectrum raved about the great schools there.
No one knows exactly how many families move, or want to move, for better autism services in the United States, but some evidence suggests that the desire to do so is common. Unpublished findings from a 2004 survey of 969 caregivers of people with autism suggest that about 1 in 5 moved to get higher quality services, according to David Mandell, associate professor of psychiatry and pediatrics at the University of Pennsylvania in Philadelphia. Local U.S. autism organizations, including the Autism Society of Colorado and AutismUp in Rochester, New York, say that just about every week they hear from a family wanting to move to another state in search of superior care. And autism forums on sites such as BabyCenter, Facebook and Reddit are rife with questions from parents about autism-friendly states. Click here to read the rest of the story.
Published by: Spectrum News
Written by: Lauren Schenkman
Silencing several autism- or schizophrenia-linked genes in the thalami of mice increases neuronal excitability there and leads to memory problems reminiscent of those seen in people with these conditions, a new study shows. A drug that reverses the hyperexcitability boosts the animals’ recall, suggesting an avenue for future therapies, researchers say.
“It’s exciting to see how different genetic changes can converge onto the same circuits in the brain, and even onto the same physiological mechanism,” says Audrey Brumback, assistant professor of neurology and pediatrics at the University of Texas at Austin, who was not involved in the research. “We’re really then getting toward the final common pathway that could be a target for treatment.”
Mice lacking the high-confidence autism-linked gene PTCHD1 in the thalamic reticular nucleus, a subregion of the thalamus, are hyperactive and have attention deficits, according to a 2015 study. In the new work, the same team eliminated PTCHD1 expression and the expression of four other genes linked to either autism or schizophrenia in a different subregion, the anterodorsal thalamus. Click here to read the rest of the story.
Published by: Cornell Chronicle
Written by: Jane Langille
Children with infantile spasms, a rare form of epileptic seizures, should be treated with one of three recommended therapies and the use of nonstandard therapies should be strongly discouraged, according to a study of their effectiveness by a Weill Cornell Medicine and NewYork-Presbyterian investigator and collaborating colleagues in the Pediatric Epilepsy Research Consortium.
Early treatment with an effective therapy is important for improving neurodevelopmental outcomes and, for some children, can result in permanent remission of epilepsy.
The study, published July 15 in Neurology, underscored a strong preference for treating infantile spasms with adrenocorticotropic hormone (ACTH) or oral steroids (typically prednisolone), which the researchers calculated were similarly effective: The%ages of children who had no further seizures after 30 days of starting initial therapy and did not require a second treatment were 46% for ACTH and 44% for oral steroids. By contrast, the estimated effectiveness of non-standard therapies (such as topiramate) was only 8%.
“The side effects of hormonal therapies like ACTH and steroids can be rough on families, which is why some may shy away from them,” said first author Dr. Zachary Grinspan, interim chief of child neurology and director of the pediatric epilepsy program at Weill Cornell Medicine and NewYork-Presbyterian Komansky Children’s Hospital. “But our research and other studies have shown that nonstandard therapies are ineffective for treating infantile spasms.” Click here to read the rest of the story.
Published by: VeryWell Health
Written by: Heidi Moawad
Ohtahara syndrome is a rare type of epilepsy that begins during infancy. It is also called early infantile epileptic encephalopathy. Children who have Ohtahara syndrome experience seizures and have severe developmental problems. This type of epilepsy is associated with a characteristic pattern that can be recognized on an electroencephalogram (EEG). Anti epilepsy drugs (AEDs) are usually needed to help manage the seizures. This condition is not curable, and children who have Ohtahara syndrome are not usually expected to survive beyond early childhood. There are exceptions, and some people with this syndrome may continue to live into adulthood, but they tend to have persistent epilepsy and physical and cognitive deficits.
Children who have Ohtahara syndrome experience their earliest seizures before the age of 3 months. They may seem healthy at birth, but can start to have jerking movements within a few weeks. In some cases, mothers may recall that their baby actually started having erratic movements during the pregnancy.
Babies who have Ohtahara syndrome may experience several types of seizures. The most common seizure types in Ohtahara syndrome include:
Tonic seizures: This is the most common type of seizure that occurs in Ohtahara syndrome. It is characterized by a stiffening of the arms and legs, usually lasting a few seconds. Click here to read the rest of the story.