Journal of Autism and Developmental Disorders最新文献

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Brief Report: Under-Identification of Symptomatic Menopause in Publicly-Insured Autistic People. 简要报告:公共保险自闭症患者症状性更年期识别不足。
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-29 DOI: 10.1007/s10803-024-06516-x
Teal W Benevides, Barb Cook, Laura G Klinger, Kiley J McLean, Gregory L Wallace, Meghan E Carey, Wei-Lin Lee, Jonas Ventimiglia, Lauren D Schiff, Lindsay Shea
{"title":"Brief Report: Under-Identification of Symptomatic Menopause in Publicly-Insured Autistic People.","authors":"Teal W Benevides, Barb Cook, Laura G Klinger, Kiley J McLean, Gregory L Wallace, Meghan E Carey, Wei-Lin Lee, Jonas Ventimiglia, Lauren D Schiff, Lindsay Shea","doi":"10.1007/s10803-024-06516-x","DOIUrl":"https://doi.org/10.1007/s10803-024-06516-x","url":null,"abstract":"<p><p>Menopause is a normal part of aging and in the general population is associated with chronic conditions that impact health, mortality, and well-being. Menopause is experienced differently by autistic individuals, although no studies have investigated this topic in a large sample. The purpose of this study was to investigate rates of, and factors associated with symptomatic menopause among autistic individuals and to identify the prevalence of co-occurring conditions in symptomatic individuals. We included autistic females aged 35-70 years enrolled for 10 + months in 2014-2016 Medicare and/or Medicaid (n = 26,904), excluding those with gender dysphoria. Those with symptomatic menopause were compared to a non-symptomatic reference group on demographic, enrollment characteristics, and co-occurring conditions through logistic regression. Approximately 4% of publicly-insured autistic females aged 46-70 years had symptomatic menopause in their medical records. Intellectual disability was associated with a lower likelihood of symptomatic menopause, and being Medicare-enrolled or dual-enrolled was associated with higher likelihood of having symptomatic menopause recorded. In adjusted models, rates of ADHD, anxiety and depressive disorders, headache/migraine, altered sensory experiences, altered sexual function, and sleep disturbance were significantly higher in the symptomatic menopause sample compared to the reference group. More work to better support autistic women in discussing menopausal symptoms and co-occurring conditions with primary care providers is needed, particularly among those for whom self-report of symptoms are more challenging to ascertain. Factors associated with specific types of health care coverage warrant greater investigation to support better identification.</p>","PeriodicalId":15148,"journal":{"name":"Journal of Autism and Developmental Disorders","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142107784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
What Silent Pauses Can 'Tell' Us About the Storytelling Skills of Autistic Children: Relations Between Pausing, Language Skills and Executive Functions. 无声停顿能 "告诉 "我们自闭症儿童讲故事的技能:停顿、语言技能和执行功能之间的关系。
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-29 DOI: 10.1007/s10803-024-06523-y
Eleni Peristeri, Katerina Drakoulaki, Antonia Boznou, Michaela Nerantzini, Angeliki Gena, Angelos Lengeris, Spyridoula Varlokosta
{"title":"What Silent Pauses Can 'Tell' Us About the Storytelling Skills of Autistic Children: Relations Between Pausing, Language Skills and Executive Functions.","authors":"Eleni Peristeri, Katerina Drakoulaki, Antonia Boznou, Michaela Nerantzini, Angeliki Gena, Angelos Lengeris, Spyridoula Varlokosta","doi":"10.1007/s10803-024-06523-y","DOIUrl":"https://doi.org/10.1007/s10803-024-06523-y","url":null,"abstract":"<p><p>Silent pauses may serve communicative purposes such as demarcating boundaries between discourse units in language production. Previous research has shown that autistic children differ in their pausing behavior from typically-developing (TD) peers, however, the factors behind this difference remain underexplored. The current study was aimed at comparing the use of silent pauses in the narrative production of autistic children and age-matched TD children, and also to identify possible relations between pausing behavior and the children's language and executive function abilities. According to the study's findings, the autistic children did not differ from their TD peers in the use of grammatical pauses, however, the former tended to produce significantly less syntactically complex narratives than the TD group, which increased the likelihood that the autistic group would pause appropriately at phrasal boundaries. Though we have found low rates of ungrammatical silent pauses and omitted pauses in obligatory discourse contexts across both groups, autistic children with lower cognitive flexibility tended to use more ungrammatical pauses than their peers with higher cognitive flexibility scores. Also, the autistic group tended to omit obligatory silent pauses more often as their narration became more complex. The results demonstrate that syntactic complexity in narrative production modulated autistic children's pausing behavior, and that structurally simple narrations boosted the autistic group's appropriate use of grammatical pauses. The overall findings also demonstrate the importance of studying silent pauses in the narrative discourse of autistic children, and also highlight the links between silent pauses and the children's syntactic and cognitive skills.</p>","PeriodicalId":15148,"journal":{"name":"Journal of Autism and Developmental Disorders","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142107785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigating the Maintained Motor Skill Achievements in a Visual Praxis Based Occupational Therapy Program: Single Blind Randomized Follow up Study. 调查基于视觉练习的职业疗法项目中运动技能的保持情况:单盲随机跟踪研究
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-28 DOI: 10.1007/s10803-024-06513-0
Barkın Köse, Ege Temizkan, Özgün Kaya Kara, Koray Kara, Sedef Şahin
{"title":"Investigating the Maintained Motor Skill Achievements in a Visual Praxis Based Occupational Therapy Program: Single Blind Randomized Follow up Study.","authors":"Barkın Köse, Ege Temizkan, Özgün Kaya Kara, Koray Kara, Sedef Şahin","doi":"10.1007/s10803-024-06513-0","DOIUrl":"https://doi.org/10.1007/s10803-024-06513-0","url":null,"abstract":"<p><p>To examine the long-term effects of Visual Praxis Based Occupational Therapy Program on the motor skills of children with Specific Learning Disabilities. Ninety-six boys and girls were divided into two groups: Experimental (n = 48) and Control (n = 48). The Experimental group received Visual Praxis Based Occupational Therapy Program in two weekly sessions for 8 weeks. All participants were assessed with the Bruininks-Oseretsky Motor Proficiency Test-2 Brief Form at three-time points; pre-test, post-test, and follow-up. The experimental group showed superior results, Bruininks-Oseretsky Motor Proficiency Test-2 Brief Form's Fine Motor Precision, Fine Motor Integration, Bilateral Coordination, Balance, Speed and Dexterity, Upper Extremity Coordination and Total Score significantly increased after the intervention (p ≤ 0 0.05) and the scores were maintained at the follow-up (p > 0.05). The Visual Praxis Based Occupational Therapy Program intervention provided a retained positive effect in the development of motor skills in children with Specific Learning Disabilities.</p>","PeriodicalId":15148,"journal":{"name":"Journal of Autism and Developmental Disorders","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142080397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Are a Child's Autistic Traits, Behavioural Difficulties, Prosocial Behaviour and Temperament Predictors of Parental Self-Efficacy and Satisfaction? A Study on Parents of Autistic and Neurotypical Children Aged 7-11 Years. 儿童的自闭症特质、行为障碍、亲社会行为和气质是父母自我效能感和满意度的预测因素吗?一项关于 7-11 岁自闭症儿童和神经典型儿童家长的研究。
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-28 DOI: 10.1007/s10803-024-06517-w
Iwona Omelańczuk, Ewa Pisula
{"title":"Are a Child's Autistic Traits, Behavioural Difficulties, Prosocial Behaviour and Temperament Predictors of Parental Self-Efficacy and Satisfaction? A Study on Parents of Autistic and Neurotypical Children Aged 7-11 Years.","authors":"Iwona Omelańczuk, Ewa Pisula","doi":"10.1007/s10803-024-06517-w","DOIUrl":"https://doi.org/10.1007/s10803-024-06517-w","url":null,"abstract":"<p><p>The aim of the study was to evaluate the significance of the severity of autistic traits, behavioural difficulties, prosocial behaviour and temperamental characteristics in children for parental self-efficacy and parental satisfaction in two groups of parents: parents of autistic children, and parents of neurotypical children. Data come from 145 parents of autistic children and 239 parents of neurotypical children. Using hierarchical multiple regression analyses, the analysis explored the role of child characteristics in prediction of parental self-efficacy and parental satisfaction. The regression model tested explained 21% variation in parental self-efficacy and 27% variation in parental satisfaction in parents of autistic children and 3% of variation of results with respect to parental self-efficacy and 17% variation in parental satisfaction in parents of neurotypical children. In both groups, parental self-efficacy and parental satisfaction were negatively correlated with such child characteristics as severity of behavioural difficulties, severity of autistic traits and emotionality as also positively related to the child's prosocial behaviour. These findings may suggest that particularly useful mental health prevention programs for parents should combine two elements: developing parents' abilities of effectively coping with children's behavioural difficulties and working on attribution processes and negative convictions about parenthood.</p>","PeriodicalId":15148,"journal":{"name":"Journal of Autism and Developmental Disorders","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142080395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the Intersection of Autism, Theory of Mind, and Driving Performance in Novice Drivers. 探索自闭症、心智理论与新手驾驶表现之间的交集。
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-28 DOI: 10.1007/s10803-024-06526-9
Abigale Plunk, Amy S Weitlauf, Zachary Warren, Daniel Levin, Nilanjan Sarkar
{"title":"Exploring the Intersection of Autism, Theory of Mind, and Driving Performance in Novice Drivers.","authors":"Abigale Plunk, Amy S Weitlauf, Zachary Warren, Daniel Levin, Nilanjan Sarkar","doi":"10.1007/s10803-024-06526-9","DOIUrl":"https://doi.org/10.1007/s10803-024-06526-9","url":null,"abstract":"<p><p>This study explores the intersection of Theory of Mind (ToM) abilities and driving performance among novice drivers, with a focus on autistic individuals. The purpose is to investigate how ToM deficits may impact driving behaviors and decision-making, ultimately informing the development of tailored interventions and training programs for autistic drivers. We conducted a series of driving simulations using a custom-built driving simulator, capturing multimodal data including driving performance metrics, attention allocation, and physiological responses. Participants were categorized based on NEPSY scores, which assess ToM abilities, and self-reported autism spectrum disorder (ASD) diagnosis. Driving tasks were designed to simulate real-world scenarios, particularly focusing on intersections and merging, where ToM skills are crucial for safe navigation. Our analysis revealed differences in driving behaviors among participants with varying ToM abilities as determined through the NEPSY. Participants with lower NEPSY scores exhibited less smooth driving behaviors, increased risk-taking tendencies, and differences in attention allocation compared to those with higher scores. Alternatively, individuals with ASD displayed comparable driving patterns overall. ToM abilities influence driving behaviors and decision-making, particularly in complex social driving scenarios. Tailored interventions addressing ToM deficits and stress management could improve driving safety and accessibility for autistic individuals. This study underscores the importance of considering social cognitive factors in driving education and licensure pathways, aiming for greater inclusivity and accessibility in transportation systems.</p>","PeriodicalId":15148,"journal":{"name":"Journal of Autism and Developmental Disorders","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142080396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Phonological Development in 3-6-Year-Old Mandarin-Speaking Children with Autism, Developmental Delays, and Typical Development. 患有自闭症、发育迟缓和发育典型的 3-6 岁普通话儿童的语音发展。
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-23 DOI: 10.1007/s10803-024-06522-z
Min Liu, Jinhe Han, Yuexin Zhang, Jieling Wen, Yanxia Wang, Xinyu Hu, Mudi Sun, Lu Qu, Xuling Han, Lian Xu, Hang Zhao, Haidan Lu, Qiaoyun Liu
{"title":"Phonological Development in 3-6-Year-Old Mandarin-Speaking Children with Autism, Developmental Delays, and Typical Development.","authors":"Min Liu, Jinhe Han, Yuexin Zhang, Jieling Wen, Yanxia Wang, Xinyu Hu, Mudi Sun, Lu Qu, Xuling Han, Lian Xu, Hang Zhao, Haidan Lu, Qiaoyun Liu","doi":"10.1007/s10803-024-06522-z","DOIUrl":"https://doi.org/10.1007/s10803-024-06522-z","url":null,"abstract":"<p><p>Research on the phonological development of children with autism spectrum disorder (ASD) has not yet reached consistent conclusions, and systematic studies from different language groups are needed. This study aimed to systematically investigate the characteristics of phonological development in 3-6 year-old Mandarin-speaking children with ASD. We analyzed 10 min speech samples from 21 children with ASD, 18 development level-matched children with developmental disorders (DD), and 15 chronological age-matched typically developing (TD) children during semi-structured parent-child free play based on Mandarin phonological features. The children with ASD had a significantly smaller inventory than those with TD on the initial and final inventories. The children with ASD had only a significantly smaller initial inventory than those with DD in Phases 2 and 4. Compared with TD children, children with ASD used a higher proportion of V<sub>1</sub> and V<sub>1</sub>V<sub>2</sub>C and a smaller proportion of V<sub>1</sub>V<sub>2</sub>V<sub>3</sub>, CV<sub>1</sub>C, and CV<sub>1</sub>V<sub>2</sub>C. No significant differences existed between ASD and DD children in the proportion of any syllable structure, but V<sub>1</sub>V<sub>2</sub>V<sub>3</sub>, CV<sub>1</sub>, and CV<sub>1</sub>V<sub>2</sub>C numbers were significantly fewer than in DD children. Children with ASD were significantly greater than children with TD in the diversity of V<sub>1</sub>V<sub>2</sub>, CV<sub>1</sub>, and overall syllables. ASD children had significantly fewer different types of syllables in both V<sub>1</sub>V<sub>2</sub>C and CV<sub>1</sub> than did DD children and significantly greater diversity in CV<sub>1</sub> and overall syllables than did DD children. These preliminary data suggest that the gap between TD and ASD children's language abilities increased with age, and this gap was reflected in initial, final, and syllable complexity and diversity. Children with DD and ASD showed similar language abilities, and children with DD showed detailed differences from those with ASD regarding initial, syllable complexity and diversity.</p>","PeriodicalId":15148,"journal":{"name":"Journal of Autism and Developmental Disorders","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Examining the Link Between Social Affect and Visual Exploration of Cute Stimuli in Autistic Children. 研究自闭症儿童的社交情感与对可爱刺激物的视觉探索之间的联系
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-22 DOI: 10.1007/s10803-024-06504-1
Alexandra Zaharia, Nada Kojovic, Tara Rojanawisut, David Sander, Marie Schaer, Andrea C Samson
{"title":"Examining the Link Between Social Affect and Visual Exploration of Cute Stimuli in Autistic Children.","authors":"Alexandra Zaharia, Nada Kojovic, Tara Rojanawisut, David Sander, Marie Schaer, Andrea C Samson","doi":"10.1007/s10803-024-06504-1","DOIUrl":"https://doi.org/10.1007/s10803-024-06504-1","url":null,"abstract":"<p><p>Baby schema refers to physical features perceived as cute, known to trigger attention, induce positive emotions, and prompt social interactions. Given the reduced visual attention to social stimuli observed in individuals on the autism spectrum, the current study examines whether the sensitivity to baby schema is also affected. We expected that the looking time towards cute-featured stimuli would vary with symptom severity levels and would be associated with social affect. Ninety-four children (31 typically developing; 63 diagnosed with autism spectrum disorder - ASD) aged 20-83 months (M = 49.63, SD = 13.59) completed an eye-tracking visual exploration task. Autistic participants were separated into two groups based on symptom severity: children with high autism severity symptoms (HS ASD; N = 23) and low-moderate autism symptoms (LMS ASD; N = 40). Animals and neutral objects were simultaneously presented on the screen along with either human babies (condition 1) or adults (condition 2). The results indicated that visual attention oriented to cute-featured stimuli varied with autism symptom severity: only LMS and TD groups spend more time looking at cute-featured stimuli (babies; animals) than neutral objects. Moreover, children with higher severity in the social affect domain spent less time on the stimuli depicting cute than non-cute stimuli. These findings suggest that autism symptom severity and social skills are linked to variations in visual attention to cute stimuli. Implications of baby schema sensitivity are discussed in relation to the development of social competencies and play, responsiveness to robot-based interventions, as well as appraised relevance in autistic children.</p>","PeriodicalId":15148,"journal":{"name":"Journal of Autism and Developmental Disorders","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Autistic Adults Avoid Unpredictability in Decision-Making. 自闭症成人在决策中避免不可预测性。
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-19 DOI: 10.1007/s10803-024-06503-2
Ana Macchia, Laura Albantakis, Paul Theo Zebhauser, Marie-Luise Brandi, Leonhard Schilbach, Anna-Katharine Brem
{"title":"Autistic Adults Avoid Unpredictability in Decision-Making.","authors":"Ana Macchia, Laura Albantakis, Paul Theo Zebhauser, Marie-Luise Brandi, Leonhard Schilbach, Anna-Katharine Brem","doi":"10.1007/s10803-024-06503-2","DOIUrl":"https://doi.org/10.1007/s10803-024-06503-2","url":null,"abstract":"<p><p>Decision-making under unpredictable conditions can cause discomfort in autistic persons due to their preference for predictability. Decision-making impairments might furthermore be associated with a dysregulation of sex and stress hormones. This prospective, cross-sectional study investigated decision-making in 32 autistic participants (AP, 14 female) and 31 non-autistic participants (NAP, 20 female) aged 18-64 years. The Iowa Gambling Task (IGT) and the Cambridge Risk Task (CRT) were used to assess decision-making under ambiguity and under risk with known outcome probabilities, respectively. Cortisol, estradiol, and testosterone serum levels were related to decision-making performance. Groups did not differ in overall IGT and CRT performance, but compared with NAP, AP preferred less profitable card decks with predictable outcomes while avoiding those with unpredictable outcomes. AP required more time to reach decisions compared to NAP. Additionally, AP without comorbid depression performed significantly worse than NAP in the IGT. Estradiol and cortisol concentrations were significant predictors of CRT scores in NAP, but not in AP. The study results imply that AP are 'risk-averse' in decision-making under ambiguity as they avoided choice options with unpredictable losses in comparison to NAP. Our findings highlight the intolerance for uncertainty, particularly in ambiguous situations. Thus, we recommend being as transparent and precise as possible when interacting with autistic individuals. Future research should explore decision-making in social situations among individuals with ASD, factoring in person-dependent variables such as depression.</p>","PeriodicalId":15148,"journal":{"name":"Journal of Autism and Developmental Disorders","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142000005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome. 扩展 KAT6B 疾病的神经心理学表型:与 KAT6A 综合征的重叠特征。
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-17 DOI: 10.1007/s10803-024-06500-5
Rowena Ng, Allison Kalinousky, Jacqueline Harris
{"title":"Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome.","authors":"Rowena Ng, Allison Kalinousky, Jacqueline Harris","doi":"10.1007/s10803-024-06500-5","DOIUrl":"https://doi.org/10.1007/s10803-024-06500-5","url":null,"abstract":"<p><p>KAT6B and KAT6A belong to the MYST family of lysine acetyltransferases, and regulate gene expression via histone modification. Although both proteins share similar structure and epigenetic regulatory functions, it remains unclear if KAT6A/6B mutation disorders, both very rare conditions, yield the same neurocognitive presentation and thus benefit from similar treatment approaches. This study provides a preliminary overview of neuropsychological functioning of 13 individuals with KAT6B disorder (Mean age = 9.01 years, SD = 5.46), which was compared to that of a recently published sample of 15 individuals with KAT6A syndrome (Mean age = 10.32 years, SD = 4.12). Participants completed a neuropsychological test battery to assess non-verbal cognition, and caregivers completed a series of standardized rating inventories to assess daily behavioral functioning. Results reveal those with KAT6B disorders present with severe adaptive deficits (92.3%) and autism-related behaviors (83.3%), juxtaposed with relatively low concerns with externalizing behaviors (7.6%), a pattern shared by the KAT6A group. Those with KAT6B disorders present with high levels of autistic features, including reduced affiliative interest, whereas social motivation is less affected within the KAT6A group. Overall, the levels of impairment in nonverbal cognition and receptive language were comparable among those with KAT6B disorders, a trend also seen in the KAT6A group. In brief, KAT6B and KAT6A disorders yield analogous neuropsychological profiles. Findings implicate common molecular pathophysiological mechanisms for these epigenetic disorders, such that similar therapies may have shared effect across diseases.</p>","PeriodicalId":15148,"journal":{"name":"Journal of Autism and Developmental Disorders","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Validity of the Systemizer Profile Questionnaire: A New Tool to Identify Cognitive, Mentalizing, Sensory, Social, and Systemizing Abilities in Adults with Autism-Spectrum-Disorders With and Without Comorbid ADHD. 系统化特征问卷的有效性:一种识别伴有或不伴有多动症的自闭症谱系障碍成人的认知、心智、感官、社交和系统化能力的新工具。
IF 3.2 2区 心理学
Journal of Autism and Developmental Disorders Pub Date : 2024-08-17 DOI: 10.1007/s10803-024-06511-2
Klaus D Jakobsen, Kirsten Callesen, Ejnar B Larsen, Ole B V Pedersen, Maria Didriksen, Sisse R Ostrowski, Karl B Christensen
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