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Nobody ever talks about catatonia

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Nobody ever talks about catatonia in autism. This podcast explores the symptoms of catatonia, how to measure it, what parents should know about tracking the symptoms, what the treatments are, and what the causes are. Dr. Martine Lamy from Cincinnati Children’s Hospital explains her work looking at genetic causes in those with catatonia and neurodevelopmental disorders. It’s important to do genetic testing on all individuals who present with catatonia because this information led to better treatments in some people. Identifying a genetic cause of not just catatonia but also neurodevelopmental disorders like ASD gives families a community but also allows them to identify more targeted interventions.

https://pubmed.ncbi.nlm.nih.gov/37864080/

https://pubmed.ncbi.nlm.nih.gov/37642312/

https://pubmed.ncbi.nlm.nih.gov/36708735/

https://globalgenes.org/rare-disease-patient-services/

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Lordy Lordy it’s One in Forty

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This week’s headlines were focused on the new prevalence numbers of 1:40.  They were not calculated using the same method as the 1:59 number, so should not be  compared.  In addition to looking at just prevalence, this survey identified a major problem for families, which is unmet mental health needs.  Those with autism have higher unmet mental health needs than those with  ADHD, anxiety or depression.  Again, there is something unique about an autism diagnosis which poses a challenge to accessing care.  In addition, a new summary paper outlined what needs to be done to better study  regression in autism.  The rate may be higher than you think if a new definition of regression is used.

 

https://www.ncbi.nlm.nih.gov/pubmed/30478241

https://www.ncbi.nlm.nih.gov/pubmed/30475449

 

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Loss of skills in autism partially explained

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Is regression a sudden loss of previously acquired skills or is it the gradual decline in a particular area of function?  Using the right tools, both parents and clinicians can document the gaining and loss of skills in different areas, and they agree on what they see.  However, rather than being a single event, regression is slow, starting at around 12 months and showing continual declines through diagnosis.  Thanks to an NIMH day long symposium on the biological causes of regression, scientists got together to discuss this loss of skills on a biological level.  They think that the decline or loss of skills is due to biological events that disrupt the formation of specific brain circuits at critical times in development.  This can be because neurons stop developing, or maybe the brain goes overboard in shaping and pruning back connections.  If you want to see the amazing full day of presentations that aired in 2016, click here:  https://videocast.nih.gov/Summary.asp?file=19500&bhcp=1.  A link to the Ozonoff study described in the podcast is here:  https://www.ncbi.nlm.nih.gov/pubmed/29524310