Can anyone help me to desing any or some interventions for language outcomes in individuals with Autism Spectrum Disorder and SHANK3, CNTNAP2, or FMRP mutations ?
Skills / interests: Risk of Bias assessment, Dissemination / Knowledge Translation, Clinical peer review, PICO annotation, Review development, Screening and selecting studies, Using GRADE, Data analysis and organisation, Writing (drafting and editing), Copy-editing and proof-reading, Searching for evidence, Translation (linguistic), Data extraction
Methodological skills / interests: Artificial intelligence, Screening and diagnostic test reviews, Co-production, Comparing multiple interventions (network meta-analysis and overviews), Information retrieval, Individual participant data meta-analysis, GRADEing, Prospective meta-analysis
Targeted Interventions for Language Outcomes in ASD with SHANK3, CNTNAP2, or FMRP Mutations
Individuals with Autism Spectrum Disorder (ASD) and mutations in SHANK3, CNTNAP2, or FMRP often experience language delays or impairments. Evidence-based interventions include:
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Behavioral Therapies: Speech therapy (e.g., PECS, ESDM), social communication training, and AAC for nonverbal individuals.
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Pharmacological Approaches:
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FMRP (Fragile X): mGluR5 antagonists (e.g., AFQ056) or minocycline.
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SHANK3: IGF-1 (e.g., Trofinetide) or Arbaclofen.
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CNTNAP2: Oxytocin trials (mixed but promising).
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Neuromodulation: TMS for Broca’s area stimulation.
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Emerging Treatments: Gene therapy, RNA-based drugs (ASOs), and metabolic support (e.g., ketogenic diet).
Early, genetically informed interventions yield the best outcomes. Clinical trials (e.g., IGF-1 for SHANK3) offer future hope.
Cochrane