Pubmed (TSA) du 30/05/26
1. Chaudhuri J, Sadhukhan D, Karmakar A, Mukherjee J, Gupta S, Roy S, Das K, Jayswal SS, Maity D, Mondal S, Sen B, Manna A, Mandal M, Ghosh KC, Biswas S, Mishra AK, Gangully G, Biswas A, Pal P, Ghosh A, Biswas A. Genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort: insights from whole-exome sequencing. Neurogenetics. 2026; 27(1).
Rare neurogenetic and neurometabolic disorders comprise a clinically and genetically heterogeneous group of conditions, frequently presenting with overlapping neurological manifestations such as developmental delay, seizures, and cognitive impairment. Whole-exome sequencing (WES) has emerged as a robust approach for elucidating the molecular basis of these disorders. A total of 184 patients with suspected rare neurological disorders were enrolled in this study. Detailed demographic and clinical data were collected, and WES was performed to identify pathogenic and likely pathogenic variants. Variants were annotated and interpreted using standard guidelines, and inheritance patterns were determined. The cohort showed a slight male predominance, with the majority of cases presenting in early childhood (mean age at onset: 29.62 ± 27.69 months). The most common clinical features included developmental delay (82.06%), seizures (74.4%), and cognitive decline (41.3%), followed by dystonia (25%) and ataxia (17.9%). This study delineates the genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort and underscores the diagnostic utility of WES. Early implementation of genomic testing can facilitate accurate diagnosis, guide clinical management, and improve genetic counseling in affected individuals.
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2. Li J, Han G, Wei Y. Developmental and Epileptic Encephalopathy Due to a Novel ARHGEF9 Deletion Variant: Case Series of Two Siblings. Rev Neurol. 2026; 81(5): 46598.
INTRODUCTION: Developmental and epileptic encephalopathy (DEE) is a group of severe neurological disorders characterized by early-onset epilepsy and developmental delay, often caused by genetic variants. Cdc42 Guanine Nucleotide Exchange Factor 9 (ARHGEF9) gene variants have been linked to DEE, yet novel variants and their phenotypic presentations remain incompletely characterized. CLINICAL CASES: Herein, we describe two siblings with DEE caused by a novel deletion variant in the ARHGEF9 gene. Both patients presented with early-onset epilepsy and developmental delay. Whole-exome sequencing identified a hemizygous c.1037_1045del variant in the ARHGEF9 gene (NM_015185.2) in both brothers, which is reported here for the first time. Notably, the two siblings exhibited a marked difference in outcomes: the elder brother achieved good seizure control with anti-epileptic drugs, while the proband, despite multidrug therapy and vagus nerve stimulation (VNS), exhibited a limited response and continued to experience frequent seizures. CONCLUSIONS: These cases expand the genotypic spectrum of ARHGEF9-related disorders and underscore the intrafamilial phenotypic variability associated with this gene. These findings emphasize the significance of early genetic testing for establishing a diagnosis, assessing prognosis, and facilitating genetic counseling.
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3. Love AMA, Edwards C, Rideout B, Hollenberg L, Clapham H, McKeown G, Robinson A, Cai RY, Benzie C, Rabba AS, Gibbs V. Understanding healthcare professionals’ experiences supporting Autistic people in perinatal care: A qualitative study. Midwifery. 2026; 160: 104868.
PROBLEM: Autistic individuals face disproportionately poor outcomes during the perinatal period. BACKGROUND: Lived experience accounts highlight that challenges in interactions with healthcare professionals can reduce birth satisfaction and contribute to traumatic experiences, revealing significant gaps in current perinatal care for this population; yet few studies have explored the experiences of healthcare workers providing this care in Australia. Understanding clinicians’ perspectives is essential to inform targeted training, improve care practices, and promote better outcomes for Autistic people during pregnancy and early parenthood. AIM: This study explored, through qualitative analysis, the experiences of Australian perinatal healthcare clinicians providing care for Autistic individuals, during pregnancy and early parenthood. METHODS: Reflexive thematic analysis was conducted on interview and focus group data of 13 perinatal professionals from diverse roles within perinatal healthcare. FINDINGS: Three key themes were created, highlighting the need for targeted training and systemic changes, alongside evidence that professionals often relied on personal experience when formal training was lacking. DISCUSSION: These findings are consistent with international research on perinatal care for Autistic people, but this study is the first to directly examine the perspectives of Australian clinicians, providing unique insights into local practice and challenges that can be leveraged to make systemic change. CONCLUSION: Despite systemic and cultural barriers, Australian perinatal healthcare professionals demonstrate strong commitment to providing individualized, person-centred care for Autistic individuals during pregnancy and early parenthood.
