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Brief Report: Sensory Reactivity in Children with Phelan–McDermid Syndrome / A. M. MIESES in Journal of Autism and Developmental Disorders, 46-7 (July 2016)
[article]
Titre : Brief Report: Sensory Reactivity in Children with Phelan–McDermid Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. M. MIESES, Auteur ; Teresa TAVASSOLI, Auteur ; E. LI, Auteur ; L. SOORYA, Auteur ; S. LURIE, Auteur ; A. Ting WANG, Auteur ; P. M. SIPER, Auteur ; A. KOLEVZON, Auteur Article en page(s) : p.2508-2513 Langues : Anglais (eng) Mots-clés : Phelan–McDermid syndrome 22q13 deletion syndrome Autism Autism spectrum disorder Sensory reactivity Sensory profile Index. décimale : PER Périodiques Résumé : Phelan–McDermid syndrome (PMS), a monogenic form of autism spectrum disorder (ASD), results from deletion or mutation of the SHANK3 gene. Atypical sensory reactivity is now included in the diagnostic criteria for ASD. Examining the sensory phenotype in monogenic forms of ASD, such as PMS, may help identify underlying mechanisms of sensory reactivity. Using the Short Sensory Profile, the current study compared sensory reactivity in 24 children with PMS to 61 children with idiopathic ASD (iASD). Results suggest that children with PMS show more low energy/weak symptoms and less sensory sensitivity as compared to children with iASD. This study is the first to demonstrate differences in sensory reactivity between children with PMS and iASD, helping to refine the PMS phenotype. En ligne : http://dx.doi.org/10.1007/s10803-016-2754-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=290
in Journal of Autism and Developmental Disorders > 46-7 (July 2016) . - p.2508-2513[article] Brief Report: Sensory Reactivity in Children with Phelan–McDermid Syndrome [Texte imprimé et/ou numérique] / A. M. MIESES, Auteur ; Teresa TAVASSOLI, Auteur ; E. LI, Auteur ; L. SOORYA, Auteur ; S. LURIE, Auteur ; A. Ting WANG, Auteur ; P. M. SIPER, Auteur ; A. KOLEVZON, Auteur . - p.2508-2513.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 46-7 (July 2016) . - p.2508-2513
Mots-clés : Phelan–McDermid syndrome 22q13 deletion syndrome Autism Autism spectrum disorder Sensory reactivity Sensory profile Index. décimale : PER Périodiques Résumé : Phelan–McDermid syndrome (PMS), a monogenic form of autism spectrum disorder (ASD), results from deletion or mutation of the SHANK3 gene. Atypical sensory reactivity is now included in the diagnostic criteria for ASD. Examining the sensory phenotype in monogenic forms of ASD, such as PMS, may help identify underlying mechanisms of sensory reactivity. Using the Short Sensory Profile, the current study compared sensory reactivity in 24 children with PMS to 61 children with idiopathic ASD (iASD). Results suggest that children with PMS show more low energy/weak symptoms and less sensory sensitivity as compared to children with iASD. This study is the first to demonstrate differences in sensory reactivity between children with PMS and iASD, helping to refine the PMS phenotype. En ligne : http://dx.doi.org/10.1007/s10803-016-2754-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=290 A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome / S. SETHURAM in Molecular Autism, 13 (2022)
[article]
Titre : A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. SETHURAM, Auteur ; T. LEVY, Auteur ; J. FOSS-FEIG, Auteur ; Danielle B. HALPERN, Auteur ; S. SANDIN, Auteur ; P. M. SIPER, Auteur ; H. WALKER, Auteur ; Joseph D. BUXBAUM, Auteur ; R. RAPAPORT, Auteur ; A. KOLEVZON, Auteur Article en page(s) : 6p. Langues : Anglais (eng) Mots-clés : Asd Autism spectrum disorder Growth hormone Igf-1 Insulin-like growth factor-1 Pms Phelan–McDermid syndrome Shank3 Jaguar, Neuren, GW Pharma, and Ovid Therapeutics. JDB has a shared patent with Mount Sinai for IGF-1 in Phelan–McDermid syndrome. No other authors have competing interests to disclose. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by 22q13 deletions including SHANK3 or pathogenic sequence variants in SHANK3 and is among the more common rare genetic findings in autism spectrum disorder (ASD). SHANK3 is critical for synaptic function, and preclinical and clinical studies suggest that insulin-like growth factor-1 (IGF-1) can reverse a range of deficits in PMS. IGF-1 release is stimulated by growth hormone secretion from the anterior pituitary gland, and this study sought to assess the feasibility of increasing IGF-1 levels through recombinant human growth hormone (rhGH) treatment, in addition to establishing safety and exploring efficacy of rhGH in children with PMS. METHODS: rhGH was administered once daily for 12 weeks to six children with PMS using an open-label design. IGF-1 levels, safety, and efficacy assessments were measured every 4 weeks throughout the study. RESULTS: rhGH administration increased levels of IGF-1 by at least 2 standard deviations and was well tolerated without serious adverse events. rhGH treatment was also associated with clinical improvement in social withdrawal, hyperactivity, and sensory symptoms. LIMITATIONS: Results should be interpreted with caution given the small sample size and lack of a placebo control. CONCLUSIONS: Overall, findings are promising and indicate the need for larger studies with rhGH in PMS. Trial registration NCT04003207. Registered July 1, 2019, https://clinicaltrials.gov/ct2/show/NCT04003207 . En ligne : http://dx.doi.org/10.1186/s13229-022-00485-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459
in Molecular Autism > 13 (2022) . - 6p.[article] A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome [Texte imprimé et/ou numérique] / S. SETHURAM, Auteur ; T. LEVY, Auteur ; J. FOSS-FEIG, Auteur ; Danielle B. HALPERN, Auteur ; S. SANDIN, Auteur ; P. M. SIPER, Auteur ; H. WALKER, Auteur ; Joseph D. BUXBAUM, Auteur ; R. RAPAPORT, Auteur ; A. KOLEVZON, Auteur . - 6p.
Langues : Anglais (eng)
in Molecular Autism > 13 (2022) . - 6p.
Mots-clés : Asd Autism spectrum disorder Growth hormone Igf-1 Insulin-like growth factor-1 Pms Phelan–McDermid syndrome Shank3 Jaguar, Neuren, GW Pharma, and Ovid Therapeutics. JDB has a shared patent with Mount Sinai for IGF-1 in Phelan–McDermid syndrome. No other authors have competing interests to disclose. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by 22q13 deletions including SHANK3 or pathogenic sequence variants in SHANK3 and is among the more common rare genetic findings in autism spectrum disorder (ASD). SHANK3 is critical for synaptic function, and preclinical and clinical studies suggest that insulin-like growth factor-1 (IGF-1) can reverse a range of deficits in PMS. IGF-1 release is stimulated by growth hormone secretion from the anterior pituitary gland, and this study sought to assess the feasibility of increasing IGF-1 levels through recombinant human growth hormone (rhGH) treatment, in addition to establishing safety and exploring efficacy of rhGH in children with PMS. METHODS: rhGH was administered once daily for 12 weeks to six children with PMS using an open-label design. IGF-1 levels, safety, and efficacy assessments were measured every 4 weeks throughout the study. RESULTS: rhGH administration increased levels of IGF-1 by at least 2 standard deviations and was well tolerated without serious adverse events. rhGH treatment was also associated with clinical improvement in social withdrawal, hyperactivity, and sensory symptoms. LIMITATIONS: Results should be interpreted with caution given the small sample size and lack of a placebo control. CONCLUSIONS: Overall, findings are promising and indicate the need for larger studies with rhGH in PMS. Trial registration NCT04003207. Registered July 1, 2019, https://clinicaltrials.gov/ct2/show/NCT04003207 . En ligne : http://dx.doi.org/10.1186/s13229-022-00485-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats / Sarah JACOT-DESCOMBES in Molecular Autism, 11 (2020)
[article]
Titre : Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats Type de document : Texte imprimé et/ou numérique Auteurs : Sarah JACOT-DESCOMBES, Auteur ; Neha U. KESHAV, Auteur ; Dara L. DICKSTEIN, Auteur ; Bridget WICINSKI, Auteur ; William G. M. JANSSEN, Auteur ; Liam L. HIESTER, Auteur ; Edward K. SARFO, Auteur ; Tahia WARDA, Auteur ; Matthew M. FAM, Auteur ; Hala HARONY-NICOLAS, Auteur ; Joseph D. BUXBAUM, Auteur ; Patrick R. HOF, Auteur ; Merina VARGHESE, Auteur Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Electron microscopy Phelan–McDermid syndrome Synapse morphology Index. décimale : PER Périodiques Résumé : BACKGROUND: Deletion or mutations of SHANK3 lead to Phelan-McDermid syndrome and monogenic forms of autism spectrum disorder (ASD). SHANK3 encodes its eponymous scaffolding protein at excitatory glutamatergic synapses. Altered morphology of dendrites and spines in the hippocampus, cerebellum, and striatum have been associated with behavioral impairments in Shank3-deficient animal models. Given the attentional deficit in these animals, our study explored whether deficiency of Shank3 in a rat model alters neuron morphology and synaptic ultrastructure in the medial prefrontal cortex (mPFC). METHODS: We assessed dendrite and spine morphology and spine density in mPFC layer III neurons in Shank3-homozygous knockout (Shank3-KO), heterozygous (Shank3-Het), and wild-type (WT) rats. We used electron microscopy to determine the density of asymmetric synapses in mPFC layer III excitatory neurons in these rats. We measured postsynaptic density (PSD) length, PSD area, and head diameter (HD) of spines at these synapses. RESULTS: Basal dendritic morphology was similar among the three genotypes. Spine density and morphology were comparable, but more thin and mushroom spines had larger head volumes in Shank3-Het compared to WT and Shank3-KO. All three groups had comparable synapse density and PSD length. Spine HD of total and non-perforated synapses in Shank3-Het rats, but not Shank3-KO rats, was significantly larger than in WT rats. The total and non-perforated PSD area was significantly larger in Shank3-Het rats compared to Shank3-KO rats. These findings represent preliminary evidence for synaptic ultrastructural alterations in the mPFC of rats that lack one copy of Shank3 and mimic the heterozygous loss of SHANK3 in Phelan-McDermid syndrome. LIMITATIONS: The Shank3 deletion in the rat model we used does not affect all isoforms of the protein and would only model the effect of mutations resulting in loss of the N-terminus of the protein. Given the higher prevalence of ASD in males, the ultrastructural study focused only on synaptic structure in male Shank3-deficient rats. CONCLUSIONS: We observed increased HD and PSD area in Shank3-Het rats. These observations suggest the occurrence of altered synaptic ultrastructure in this animal model, further pointing to a key role of defective expression of the Shank3 protein in ASD and Phelan-McDermid syndrome. En ligne : http://dx.doi.org/10.1186/s13229-020-00393-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438
in Molecular Autism > 11 (2020)[article] Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats [Texte imprimé et/ou numérique] / Sarah JACOT-DESCOMBES, Auteur ; Neha U. KESHAV, Auteur ; Dara L. DICKSTEIN, Auteur ; Bridget WICINSKI, Auteur ; William G. M. JANSSEN, Auteur ; Liam L. HIESTER, Auteur ; Edward K. SARFO, Auteur ; Tahia WARDA, Auteur ; Matthew M. FAM, Auteur ; Hala HARONY-NICOLAS, Auteur ; Joseph D. BUXBAUM, Auteur ; Patrick R. HOF, Auteur ; Merina VARGHESE, Auteur.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020)
Mots-clés : Autism spectrum disorder Electron microscopy Phelan–McDermid syndrome Synapse morphology Index. décimale : PER Périodiques Résumé : BACKGROUND: Deletion or mutations of SHANK3 lead to Phelan-McDermid syndrome and monogenic forms of autism spectrum disorder (ASD). SHANK3 encodes its eponymous scaffolding protein at excitatory glutamatergic synapses. Altered morphology of dendrites and spines in the hippocampus, cerebellum, and striatum have been associated with behavioral impairments in Shank3-deficient animal models. Given the attentional deficit in these animals, our study explored whether deficiency of Shank3 in a rat model alters neuron morphology and synaptic ultrastructure in the medial prefrontal cortex (mPFC). METHODS: We assessed dendrite and spine morphology and spine density in mPFC layer III neurons in Shank3-homozygous knockout (Shank3-KO), heterozygous (Shank3-Het), and wild-type (WT) rats. We used electron microscopy to determine the density of asymmetric synapses in mPFC layer III excitatory neurons in these rats. We measured postsynaptic density (PSD) length, PSD area, and head diameter (HD) of spines at these synapses. RESULTS: Basal dendritic morphology was similar among the three genotypes. Spine density and morphology were comparable, but more thin and mushroom spines had larger head volumes in Shank3-Het compared to WT and Shank3-KO. All three groups had comparable synapse density and PSD length. Spine HD of total and non-perforated synapses in Shank3-Het rats, but not Shank3-KO rats, was significantly larger than in WT rats. The total and non-perforated PSD area was significantly larger in Shank3-Het rats compared to Shank3-KO rats. These findings represent preliminary evidence for synaptic ultrastructural alterations in the mPFC of rats that lack one copy of Shank3 and mimic the heterozygous loss of SHANK3 in Phelan-McDermid syndrome. LIMITATIONS: The Shank3 deletion in the rat model we used does not affect all isoforms of the protein and would only model the effect of mutations resulting in loss of the N-terminus of the protein. Given the higher prevalence of ASD in males, the ultrastructural study focused only on synaptic structure in male Shank3-deficient rats. CONCLUSIONS: We observed increased HD and PSD area in Shank3-Het rats. These observations suggest the occurrence of altered synaptic ultrastructure in this animal model, further pointing to a key role of defective expression of the Shank3 protein in ASD and Phelan-McDermid syndrome. En ligne : http://dx.doi.org/10.1186/s13229-020-00393-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438