Pubmed du 09/03/24
1. Alayoubi AM, Iqbal M, Aman H, Hashmi JA, Alayadhi L, Al-Regaiey K, Basit S. Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder. Sci Rep;2024 (Mar 8);14(1):5765.
Autism spectrum disorder (ASD) is a complicated, lifelong neurodevelopmental disorder affecting verbal and non-verbal communication and social interactions. ASD signs and symptoms appear early in development before the age of 3 years. It is unlikely for a person to acquire autism after a period of normal development. However, we encountered an 8-year-old child who developed ASD later in life although his developmental milestones were normal at the beginning of life. Sequencing the complete coding part of the genome identified a hemizygous nonsense mutation (NM_001367857.2):c.1803C>G; (p.Tyr601Ter) in the gene (SATL1) encoding spermidine/spermine N1-acetyl transferase like 1. Screening an ASD cohort of 28 isolated patients for the SATL1 gene identified another patient with the same variant. Although SATL1 mutations have not been associated with any human diseases, our data suggests that a mutation in SATL1 is the underlying cause of ASD in our cases. In mammals, mutations in spermine synthase (SMS), an enzyme needed for the synthesis of spermidine polyamine, have been reported in a syndromic form of the X-linked mental retardation. Moreover, SATL1 gene expression studies showed a relatively higher expression of SATL1 transcripts in ASD related parts of the brain including the cerebellum, amygdala and frontal cortex. Additionally, spermidine has been characterized in the context of learning and memory and supplementations with spermidine increase neuroprotective effects and decrease age-induced memory impairment. Furthermore, spermidine biosynthesis is required for spontaneous axonal regeneration and prevents α-synuclein neurotoxicity in invertebrate models. Thus, we report, for the first time, that a mutation in the SATL1 gene could be a contributing factor in the development of autistic symptoms in our patients.
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2. Asbury K, Toseeb U, Barrow N. What do parents of nonverbal and minimally verbal autistic children think about genomic autism research?. Autism;2024 (Mar 9):13623613231213431.
In Summer 2021, a genomic study of autism, Spectrum 10 K, was paused due to backlash from the autistic and autism communities. This raised important questions about how these communities perceive genomic research. The Personal Experiences of Autism and Perceptions of DNA-based research study was established to address this issue among a range of sub-groups within these communities. Twenty parents of nonverbal or minimally verbal autistic children took part in the current study. Data were provided in diverse formats including online interviews, telephone interviews, and writing. This approach was co-produced with autistic experts by experience and involved a parent of a minimally verbal autistic child. Data were analysed using reflexive Thematic Analysis. We found that participants were supportive of autism research, including some genomic research, as long as it is designed to support autistic people and is ethical and transparent. However, while some believed that polygenic scores, genomic predictors of the statistical probability of being autistic, would be helpful, others argued that this would only be true in an ideal world and that the world is too far from ideal. Participants felt excluded from the autistic and autism communities and that the dominant voices in those communities do not represent them or their children. We concluded that genomic researchers need to work with the autistic and autism communities to design future work, and that it is important to ensure a representative range of voices are heard.
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3. Eyuboglu D, Eyuboglu M, Yaylaci F, Guller B, Sahbudak B, Avunduk A, Dagli OO, Pala SC, Arslantas D. The Validity and Reliability of the Turkish Version of the Autism Family Experience Questionnaire (AFEQ). J Autism Dev Disord;2024 (Mar 8)
The aim of this study was to examine the reliability and validity of the Turkish version of the AFEQ for Turkish parents of children with ASD. The Turkish-translated version of the AFEQ was administered to 241 parents of children aged 2-12 years with ASD to examine the construct validity and internal consistencies. Parents completed the Autism Behavior Checklist (ABC), and Quality of Life in Autism Questionnaire Parent version, along with the AFEQ. The mean age of the children of 241 individuals in the study group was 7.63 ± 3.02 and 88.4% (n = 213) were male. Cronbach’s alpha coefficient was 0.921 of the total variance. Cronbach alpha coefficients are 0.813 for the « Experience of being a parent » subscale, 0.768 for the « Family Life » subscale, 0.810 for the « Child Development, Understanding and Social Relationships » subscale, and 0.804 for the « Child Symptoms (Feelings and Behaviour) » subscale. In conclusion, the translated and culturally adapted AFEQ shows good reliability and validity to measure the priorities of autistic children and their families in Turkey. It can also be useful in monitoring the effectiveness of intervention programs and changes in the child.
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4. Leblanc L, Genest C, Villemaire J, Dodin P, Gauvin-Lepage J. Management of Procedural Pain and Anxiety in Youth With Autism Spectrum Disorder: A Scoping Review. Pain Manag Nurs;2024 (Mar 9)
BACKGROUND: Although there is a body of literature on the implementation of interventions to manage procedural pain and anxiety in youth with autism spectrum disorders (ASD), we found no literature presenting the current state of knowledge on this topic. OBJECTIVES: To review the state of knowledge on interventions for the management of procedural pain and anxiety in children and adolescents with ASD. METHOD: A scoping review using PRISMA-ScR was conducted. DATA SOURCES: PubMed, MEDLINE, all EBM reviews, Embase, APA PsychInfo, EBSCO CINAHL, and ProQuest Dissertations and Theses Global databases were searched. Gray literature was also searched. ANALYSIS METHOD: Braun and Clarke’s (2006) model for thematic analysis in psychology was used to synthesize the search results. RESULTS: Thirty articles were selected. Analysis of the extracted data revealed four elements of intervention for better management of procedural pain and anxiety in the study population: 1) characteristics of the procedure and the immediate environment; 2) parent-child interactions; 3) health care provider-child interactions; and 4) direct pharmacological and nonpharmacological interventions. IMPLICATIONS FOR NURSING PRACTICE: Nurses must be able to implement appropriate interventions for the management of procedural pain and anxiety in youth with an autism spectrum disorder.
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5. Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L. FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development. Am J Med Genet B Neuropsychiatr Genet;2024 (Mar 8):e32970.
Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1 sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene. Next-generation sequencing (NGS) now enables unbiased diagnostics. Through the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, we gathered data from patients with heterozygous FOXG1 variants presenting a mild phenotype, defined as able to speak and walk independently. We also reviewed data from three previously reported patients meeting our criteria. We identified five new patients with pathogenic FOXG1 missense variants, primarily in the forkhead domain, showing varying nonspecific intellectual disability and developmental delay. These features are not typical of congenital Rett syndrome and were rarely associated with microcephaly and epilepsy. Our findings are consistent with a previous genotype-phenotype analysis by Mitter et al. suggesting the delineation of five different FOXG1 genotype groups. Milder phenotypes were associated with missense variants in the forkhead domain. This information may facilitate prognostic assessments in children carrying a FOXG1 variant and improve the interpretation of new variants identified with genomic sequencing.
