Pubmed du 24/02/22
1. Bangert K, Scott KS, Adams C, Kisenwether JS, Giuffre L, Reed J, Thurman AJ, Abbeduto L, Klusek J. Cluttering in the Speech of Young Men With Fragile X Syndrome. Journal of speech, language, and hearing research : JSLHR. 2022; 65(3): 954-69.
PURPOSE: Cluttering is a fluency disorder that has been noted clinically in individuals with fragile X syndrome (FXS). Yet, cluttering has not been systematically characterized in this population, hindering identification and intervention efforts. This study examined the rates of cluttering in male young adults with FXS using expert clinical opinion, the alignment between expert clinical opinion and objectively quantified features of cluttering from language transcripts, and the association between cluttering and aspects of the FXS phenotype. METHOD: Thirty-six men with FXS (aged 18-26 years; M = 22, SD = 2.35) contributed language samples and completed measures of nonverbal cognition, autism symptoms, anxiety, and symptoms of attention-deficit/hyperactivity disorder (ADHD). The presence of cluttering was determined by the consensus of two clinical experts in fluency disorders based on characteristics exhibited in the language sample. Cluttering features (speech rate, disfluencies, etc.) were also objectively quantified from the language transcripts. RESULTS: Clinical experts determined that 50% of participants met the criteria for a cluttering diagnosis. Phrase repetitions were the most salient feature that distinguished individuals who cluttered. Although the presence of cluttering was not associated with autism symptoms or mean length of utterance, cluttering was more likely to occur when nonverbal cognitive ability was higher, ADHD symptoms were elevated, and anxiety symptoms were low. CONCLUSIONS: Half of the male young adults with FXS exhibited cluttering, which supports FXS as a genetic diagnosis that is highly enriched for risk of cluttering. Cluttering was associated with increased ADHD symptoms and cognitive ability and reduced anxiety symptoms. This study contributes a new description of the clinical presentation of cluttering in men with FXS and may lead to improved understanding of the potential underlying mechanisms of cluttering and eventual refinements to treatment and diagnosis.
Lien vers le texte intégral (Open Access ou abonnement)
2. Barokova MD, Tager-Flusberg H. How do parents refer to their children while playing? a cross-linguistic comparison of parental input to bulgarian- and english-speaking children with ASD. Journal of child language. 2022: 1-22.
Instances of person-reference, in the form of personal pronouns, names, or terms of endearment, are frequently used in child-directed speech. Examining this aspect of parental input is especially relevant to children with autism, who experience difficulties with person-reference. In this study, we compared the person-reference during parent-child interactions of Bulgarian (N=37) and English-speaking (N=37) parents of children with autism, who were matched on the language ability of their child. English-speaking parents used significantly more personal pronouns to refer to their children, while Bulgarian-speaking parents used the child’s name more along with kinship terms. Furthermore, Bulgarian-speaking parents used significantly more different ways to refer to their child. These group differences were interpreted in the context of structural differences in the pronominal systems of Bulgarian and English, and in terms of culturally different discourse practices.
Lien vers le texte intégral (Open Access ou abonnement)
3. Carlsson T, Rosenqvist M, Butwicka A, Larsson H, Lundström S, Pan PY, Lundin Remnélius K, Taylor MJ, Bölte S. Association of cumulative early medical factors with autism and autistic symptoms in a population-based twin sample. Translational psychiatry. 2022; 12(1): 73.
Although highly heritable, environment also contributes to the etiology of autism spectrum disorder (ASD), with several specific environmental factors previously suggested. A registry-linked population-based twin cohort of 15,701 pairs (586 individuals with an ASD diagnosis), was established within the Child and Adolescent Twin Study in Sweden. Participants were evaluated for autistic symptoms at age 9 using the Autism-Tics, ADHD and other Comorbidities parental interview. A series of binary cut-offs indicated whether participants scored over various ASD symptom percentiles. Three early medical factors previously associated with ASD, beyond familial confounding (low birth weight, congenital malformations and perinatal hypoxia), were summed up creating an individual cumulative exposure load. A series of unconditional logistic regressions between all individuals and conditional regressions within twin pairs were performed for each outcome and exposure level. Between all individuals increasing cumulative early exposure loads were associated with increasing risk of ASD diagnosis (OR 3.33 (95%CI 1.79-6.20) for three exposures) and autistic symptoms (ranging from OR 2.12 (1.57-2.86) for three exposures at the 55th symptom percentile cut-off to OR 3.39 (2.2-5.24) at the 95th). Within twin pairs, the association between three exposures and an ASD diagnosis remained similar, but not statistically significant (OR 2.39 (0.62-9.24)). Having a higher load of early cumulative exposure was consistently associated with autistic symptoms after adjusting for familial confounding and sex (OR 3.45 (1.66-7.15) to OR 7.36 (1.99-27.18)). This study gives support to the cumulative stress hypothesis of ASD, and the dimensional model regarding environmental exposures, after adjustment for familial confounding.
Lien vers le texte intégral (Open Access ou abonnement)
4. Doherty M, Neilson S, O’Sullivan J, Carravallah L, Johnson M, Cullen W, Shaw SCK. Barriers to healthcare and self-reported adverse outcomes for autistic adults: a cross-sectional study. BMJ open. 2022; 12(2): e056904.
OBJECTIVES: Autistic people experience poor physical and mental health along with reduced life expectancy compared with non-autistic people. Our aim was to identify self-reported barriers to primary care access by autistic adults compared with non-autistic adults and to link these barriers to self-reported adverse health consequences. DESIGN: Following consultation with the autistic community at an autistic conference, Autscape, we developed a self-report survey, which we administered online through social media platforms. SETTING: A 52-item, international, online survey. PARTICIPANTS: 507 autistic adults and 157 non-autistic adults. PRIMARY AND SECONDARY OUTCOME MEASURES: Self-reported barriers to accessing healthcare and associated adverse health outcomes. RESULTS: Eighty per cent of autistic adults and 37% of non-autistic respondents reported difficulty visiting a general practitioner (GP). The highest-rated barriers by autistic adults were deciding if symptoms warrant a GP visit (72%), difficulty making appointments by telephone (62%), not feeling understood (56%), difficulty communicating with their doctor (53%) and the waiting room environment (51%). Autistic adults reported a preference for online or text-based appointment booking, facility to email in advance the reason for consultation, the first or last clinic appointment and a quiet place to wait. Self-reported adverse health outcomes experienced by autistic adults were associated with barriers to accessing healthcare. Adverse outcomes included untreated physical and mental health conditions, not attending specialist referral or screening programmes, requiring more extensive treatment or surgery due to late presentations and untreated potentially life-threatening conditions. There were no significant differences in difficulty attending, barriers experienced or adverse outcomes between formally diagnosed and self-identified autistic respondents. CONCLUSIONS: Reduction of healthcare inequalities for autistic people requires that healthcare providers understand autistic perspectives, communication needs and sensory sensitivities. Adjustments for autism-specific needs are as necessary as ramps for wheelchair users.
Lien vers le texte intégral (Open Access ou abonnement)
5. Guilfoyle J, Winston M, Sideris J, Martin GE, Nayar K, Bush L, Wassink T, Losh M. Childhood Academic Performance: A Potential Marker of Genetic Liability to Autism. Journal of autism and developmental disorders. 2022.
Autism spectrum disorder (ASD), a heritable neurodevelopmental disorder, confers genetic liability that is often expressed among relatives through subclinical, genetically-meaningful traits, or endophenotypes. For instance, relative to controls, parents of individuals with ASD differ in language-related skills, with differences emerging in childhood. To examine ASD-related endophenotypes, this study investigated developmental academic profiles among clinically unaffected siblings of individuals with ASD (n = 29). Lower performance in language-related skills among siblings mirrored previously-reported patterns among parents, which were also associated with greater subclinical ASD-related traits in themselves and their parents, and with greater symptom severity in their sibling with ASD. Findings demonstrated specific phenotypes, derived from standardized academic testing, that may represent childhood indicators of genetic liability to ASD in first-degree relatives.
