Lithium as rescue therapy for regressive ASD 2 case studies

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Lithium as rescue therapy for regressive ASD 2 case studies

Postby kulkulkan » Thu May 28, 2015 4:23 pm

Both case studies had SHANK3 microdeletion/mutation. Lithium is used for mood disorders for variety of neurodisorders and did reasonably well in preliminary ASD trial (and few case studies). Also may help with FragileX (mouse model). We recently ran out and have re-ordered it.

Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports
Sylvie Serret*, Susanne Thümmler, Emmanuelle Dor, Stephanie Vesperini, Andreia Santos and Florence Askenazy

* Corresponding author: Sylvie Serret

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BMC Psychiatry 2015, 15:107 doi:10.1186/s12888-015-0490-1

Published: 7 May 2015
Phelan-Mc Dermid syndrome is a contiguous disorder resulting from 22q13.3 deletion implicating the SHANK3 gene. The typical phenotype includes neonatal hypotonia, moderate to severe intellectual disability, absent or delayed speech, minor dysmorphic features and autism or autistic-like behaviour. Recently, point mutations or micro-deletions of the SHANK3 gene have been identified, accompanied by a phenotype different from the initial clinically description in Phelan McDermid syndrome.

Case presentation
Here we present two case studies with similar psychiatric and genetic diagnosis as well as similar clinical history and evolution. The two patients were diagnosed with autism spectrum disorders in childhood and presented regression with catatonia features and behavioural disorders after a stressful event during adolescence. Interestingly, both patients presented mutation/microdeletion of the SHANK3 gene, inducing a premature stop codon in exon 21. Different pharmacological treatments (antipsychotics, benzodiazepines, mood stabilizer drugs, antidepressants, and methylphenidate) failed to improve clinical symptoms and lead to multiple adverse events. In contrast, lithium therapy reversed clinical regression, stabilized behavioural symptoms and allowed patients to recover their pre-catatonia level of functioning, without significant side effects.

These cases support the hypothesis of a specific SHANK3 phenotype. This phenotype might be linked to catatonia-like deterioration for which lithium use could be an efficient treatment. Therefore, these cases provide an important contribution to the field of autism research, clinical genetics and possible pharmacological answers.

Keywords: Autism; SHANK3 gene; Lithium; Regression; Catatonia

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Re: Lithium as rescue therapy for regressive ASD 2 case studies

Postby lioralourie » Wed Nov 18, 2015 1:55 am

Lithium has known neuroprotective and neurotrophic properties

but careful, as it can suppress the thyroid in some people.

I have a daughter with Down Syndrome (no ASD, that's the older one, now healed), who has taken lithium 5 mg - but just twice a week.

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