Browsing by Subject "Developmental disorder"

Now showing 1 - 2 of 2
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    Assessing Clinical Global Impressions Severity Scores in an adolescent ASD and DD population across counties
    (2023-09) Reddy, Enugu Hari Priya; Neal, Tiffany; Deodhar, Aditi; Swiezy, Naomi
    The Indiana NeuroDiagnostic Institute (NDI) embodies comprehensive care, stabilization, and transition support for teenagers with autism, across the stages like waitlist, preadmission, admission, discharge, and follow-up, focusing on sustainable community integration and preventing re-admission. The project employs the Clinical Global Impressions (CGI; adapted from Guy, 1976), gauging illness severity and patient progress on a scale of 1 (Normal) to 7 (Extremely ill), assessed preadmission and post-discharge. Most counties initially had high severity scores (7 and 6) but showed a marked shift towards level 5 after leaving the care facility. This positive trend persisted at 1 month, 9 months, and 12 months post-discharge, though data samples were limited. The findings emphasize the enduring benefits of interventions. Factors like individual response variations and external support may have influenced outcomes, warranting further investigation. Overall, the study underscores the effectiveness of tailored interventions for individuals with autism, with potential for broader validation in larger, diverse samples.
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    Research‐Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3‐Related Disorder: The End of a Diagnostic Journey for This Family
    (Wiley, 2025) Liaqat, Khurram; Treat, Kayla; Mantcheva, Lili; McLaughlin, Aaron; Breman, Amy; McPheron, Molly; Conboy, Erin; Vetrini, Francesco; Medical and Molecular Genetics, School of Medicine
    The DOCK3 gene (NM_004947.5) is located on chromosome 3p21.2 spanning 53 exons and encodes the dedicator of cytokinesis 3 protein. DOCK3 belongs to the family of guanine nucleotide exchange factors (GEFs) that activate GTPases. DOCK3 is expressed almost exclusively in the central nervous system and has been shown to promote axonal outgrowth. Biallelic disruptions of DOCK3 are implicated in a neurodevelopmental disorder presenting with intellectual disability, hypotonia and ataxia (OMIM: 618292). We report a 9-year-old female with global developmental delay, moderate intellectual disability, wide-based and ataxic gait, hypotonia, benign nocturnal myoclonus, bifid uvula, moderate obstructive sleep apnea, and alternating esotropia. Prior to enrollment in the Undiagnosed Rare Disease Clinic (URDC), the patient's clinical exome testing was negative. The subsequent enrollment in URDC allowed further research investigations through whole genome sequencing (GS) that identified two compound heterozygous variants in the DOCK3 gene, ultimately yielding an unequivocal definitive molecular diagnosis.