Article
Biochemistry & Molecular Biology
Lottie D. Morison, Ruth O. Braden, David J. Amor, Amanda Brignell, Bregje W. M. van Bon, Angela T. Morgan
Summary: Speech and language impairments are common in individuals with DYRK1A syndrome. Early access to tailored, graphic augmentative and alternative communication systems is necessary to support their communication. These individuals often have severe apraxia and dysarthria, impaired social behavior, and low language skills.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Kelsie A. Boulton, Adam J. Guastella, Marie-Antoinette Hodge, Eleni A. Demetriou, Natalie Ong, Natalie Silove
Summary: Children with neurodevelopmental conditions attending developmental assessment services have high rates of mental health concerns, with approximately 48% of preschool and 61% of school-age children having subclinical or clinically elevated scores. These rates remain high even after excluding items specifically related to neurodevelopmental concerns. School-aged females are more likely to have elevated internalizing problems compared to males (67% vs 48%). Children with multiple DSM-5 diagnoses also show a greater rate of subclinical or clinically elevated scores. These findings highlight the importance of identifying and addressing mental health concerns in children attending developmental assessment services.
JOURNAL OF AFFECTIVE DISORDERS
(2023)
Article
Behavioral Sciences
Evangeline C. Kurtz-Nelson, Hannah M. Rea, Aiva C. Petriceks, Caitlin M. Hudac, Tianyun Wang, Rachel K. Earl, Raphael A. Bernier, Evan E. Eichler, Emily Neuhaus
Summary: Likely gene-disrupting (LGD) variants in the DYRK1A gene are responsible for DYRK1A syndrome, which is associated with autism spectrum disorder (ASD) and intellectual disability (ID). This study provides a comprehensive characterization of the ASD profile in individuals with LGD variants in DYRK1A. The findings suggest that individuals with DYRK1A syndrome show similar social communication behaviors to children with idiopathic ASD and below-average nonverbal IQ, with specific challenges in social reciprocity and nonverbal communication.
Article
Biochemistry & Molecular Biology
Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani
Summary: Intelectual disability (ID) and autism spectrum disorder (ASD) are often associated and characterized by impairments in cognitive processes and daily life tasks. Molecular diagnosis is crucial for improving prognosis and initiating treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Psychology, Developmental
Gail A. Alvares, Melissa K. Licari, Paul G. Stevenson, Keely Bebbington, Matthew N. Cooper, Emma J. Glasson, Diana W. Tan, Mirko Uljarevic, Kandice J. Varcin, John Wray, Andrew J. O. Whitehouse
Summary: The study found that as birth order increases, adaptive functioning and intelligence scores in Autism Spectrum Disorder (ASD) cases decrease, with later-born children more likely to have intellectual disabilities.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2021)
Article
Public, Environmental & Occupational Health
Martin Brynge, Renee M. Gardner, Hugo Sjoqvist, Brian K. Lee, Christina Dalman, Hakan Karlsson
Summary: This study aimed to clarify the relationship between maternal cytokines and ASD by evaluating levels of 17 cytokines in first trimester maternal serum samples. The overall findings indicated no consistent associations between maternal cytokines and ASD, although certain individual associations were observed. The patterns of associations varied across different diagnostic sub-groups.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Genetics & Heredity
Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina A. N. Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frederic Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte De Bie, Sjoerd J. B. Holwerda, Mary Alice Abbot, Stylianos E. Antonarakis, Bart Loeys
Summary: This study describes a neurodevelopmental disorder caused by de novo variants in CTR9, primarily affecting PAF1C function. Clinical features of the patients include intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder.
GENETICS IN MEDICINE
(2022)
Article
Neurosciences
Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen
Summary: This report details the clinical characteristics of six individuals with WASF1-related NDD, demonstrating a broader spectrum of neurodevelopmental impairment and new variant types, including CNV and missense variants altering the same residue. It adds further evidence that de novo variants in WASF1 cause an autosomal dominant NDD.
Article
Pediatrics
Hajer Naveed, Maria Mccormack, J. Lloyd Holder Jr
Summary: This study used the SRS-2 scale to compare the social-behavioral impairments of developmental synaptopathy-SYNGAP1-related Intellectual Disability (SYNGAP1-ID) with Phelan-McDermid syndrome (PMD) and healthy controls. The results showed similar levels of social-behavioral impairments between SYNGAP1-ID and PMD, with a positive correlation between age and total score found only in SYNGAP1-ID individuals.
FRONTIERS IN PEDIATRICS
(2023)
Article
Biology
Ethiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker, Kohtaro Takizawa, Jonathan Levy, Thomas Rambaud, Konstantin L. Makridis, Yoshio Goshima, Na Li, Maaike Vreeburg, Benedicte Demeer, Achim Dickmanns, Alexander P. A. Stegmann, Hao Hu, Fumio Nakamura, Angela M. Kaindl
Summary: Variants in the CRMP1 gene are discovered to be associated with neurodevelopmental disorders such as muscular hypotonia, intellectual disability, and/or autism spectrum disorder. These variants may affect the protein structure and function of CRMP1, leading to alterations in cellular processes and neurite outgrowth.
Article
Genetics & Heredity
Johannes Kraemer, Meinrad Beer, Harald Bode, Benedikt Winter
Summary: Autism spectrum disorder (ASD) often coexists with intellectual disability (ID), and mutations in the TRAPPC9 gene may lead to both ID and ASD. Further research on TRAPPC9 should include specific testing for ASD.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
Hyunjin Kwon, Hyokju Maeng, Jinwook Chung
Summary: This study developed an ICT-based exergame for children with developmental disabilities (DD) and examined its impacts on physical fitness and fundamental motor skills (FMS). The results showed that the exergame program significantly improved physical fitness and three FMS (hop, overhand throw, and dribble) in children with DD except for the horizontal jump skill.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cell Biology
Noemie Cresto, Nicolas Lebrun, Florent Dumont, Franck Letourneur, Pierre Billuart, Nathalie Rouach
Summary: This study found that in OPHN1 knockout mice, basal synaptic transmission and long-term potentiation are impaired in the adult stage, while only long-term depression is impaired in the juvenile stage. This suggests that OPHN1 differently affects synaptic function during brain maturation, providing therapeutic opportunities for early intervention.
Article
Clinical Neurology
Trine Tangeraas, Juliana R. Constante, Paul Hoff Backe, Alfonso Oyarzabal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, Francois G. Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F. Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodriguez-Pombo, Nouriya Al-Sannaa, Mariela de los Santos, Jordi Muchart Lopez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D. Stoway, Rafael Artuch, Marjorie Dixon, Lars Morkrid, Angeles Garcia-Cazorla
Summary: Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. This study reports the largest cohort of patients studied, expanding the phenotypic and genotypic spectrum, and provides newborn screening findings and mid-term clinical outcome.
Article
Biochemistry & Molecular Biology
Rui Song, Jin Zhang, Riley E. Perszyk, Chad R. Camp, Weiting Tang, Varun Kannan, Jia Li, Yuchen Xu, Jiahui Chen, Yinlong Li, Steven H. Liang, Stephen F. Traynelis, Hongjie Yuan
Summary: NMDAR plays a crucial role in neural transmission and is associated with various neurological conditions. This study focuses on understanding the mechanism of FDA-approved NMDAR drugs by evaluating their structural determinants and pharmacological effects.
JOURNAL OF NEUROCHEMISTRY
(2023)
Article
Psychology, Developmental
Willow J. Sainsbury, Kelly Carrasco, Andrew J. O. Whitehouse, Hannah Waddington
Summary: Autism and attention-deficit/hyperactivity disorder (ADHD) often occur together. This study found that children with both autism and ADHD were diagnosed with ADHD earlier and autism later. Parents of children with both disorders reported less atypical development in language and social behaviors, experienced longer wait times for diagnosis, and saw more types of specialists before getting a diagnosis compared to parents of children with just autism.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Correction
Psychology, Developmental
Willow J. Sainsbury, Kelly Carrasco, Andrew J. O. Whitehouse, Hannah Waddington
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Dentistry, Oral Surgery & Medicine
Gail A. Alvares, Kareen Mekertichian, Felicity Rose, Sally Vidler, Andrew J. O. Whitehouse
Summary: This study investigated the oral health and dental service needs of children diagnosed with autism and explored the relationship with clinical phenotypes. The results showed that one third of parents reported poorer oral health in their child compared to other children the same age, with 26% reporting untreated dental problems. A third of children had undergone general anesthesia for dental procedures. Children who had undergone general anesthesia were more likely to have intellectual disability and greater functional difficulties. Parents of children with greater functional limitations and sensory challenges reported experiencing barriers to accessing dental care more frequently.
SPECIAL CARE IN DENTISTRY
(2023)
Review
Psychology, Developmental
Willow J. Sainsbury, Kelly Carrasco, Andrew J. O. Whitehouse, Lauren McNeil, Hannah Waddington
Summary: This systematic review found that when ASD and ADHD co-occur, ASD is typically diagnosed later and ADHD is typically diagnosed earlier. Further research is needed to understand the factors influencing the delayed diagnosis of ASD and the earlier diagnosis of ADHD when the two conditions are present together.
REVIEW JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Biochemistry & Molecular Biology
Adam J. Guastella, Kelsie A. Boulton, Andrew J. O. Whitehouse, Yun Ju Song, Rinku Thapa, Simon G. Gregory, Izabella Pokorski, Joanna Granich, Marilena M. DeMayo, Zahava Ambarchi, John Wray, Emma E. Thomas, Ian B. Hickie
Summary: Although oxytocin plays a crucial role in mammalian social development, its effectiveness as a medication to enhance human social development remains unclear. This study found that administering oxytocin to children with autism between the ages of 3 and 5 showed some indication of improvement in social responsiveness. However, there was no evidence of benefit in the overall sample or in the younger age group.
MOLECULAR PSYCHIATRY
(2023)
Review
Psychology, Clinical
Brittany Wolff, Iliana Magiati, Rachel Roberts, Rachel Skoss, Emma J. Glasson
Summary: Siblings of persons with neurodevelopmental conditions are at increased risk of poorer psychosocial functioning. Psychosocial interventions can improve their mental health and wellbeing outcomes, especially in terms of self-esteem, social wellbeing, and NDC knowledge. However, the effectiveness of interventions varies depending on individual and family circumstances.
CLINICAL CHILD AND FAMILY PSYCHOLOGY REVIEW
(2023)
Article
Psychology, Clinical
Kristelle Hudry, Jodie Smith, Sarah Pillar, Kandice J. Varcin, Catherine A. Bent, Maryam Boutrus, Lacey Chetcuti, Alena Clark, Cheryl Dissanayake, Teresa Iacono, Lyndel Kennedy, Alicia Lant, Jemima Robinson Lake, Leonie Segal, Vicky Slonims, Carol Taylor, Ming Wai Wan, Jonathan Green, Andrew J. O. Whitehouse
Summary: Natural Language Sampling (NLS) has the potential for communication and language assessment when other data is difficult to interpret. We used NLS to examine the reliability and validity of measures coded from video of child language, parent linguistic input, and communicative interaction in 18-month-olds showing signs of autism. The results showed good agreement among coders and strong validity of NLS for quantifying emerging skills.
RESEARCH ON CHILD AND ADOLESCENT PSYCHOPATHOLOGY
(2023)
Article
Psychology, Developmental
Brittany Wolff, Vithor R. Franco, Iliana Magiati, Matthew N. Cooper, Rachel Roberts, Rachel Skoss, Emma J. Glasson
Summary: Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors. The NDC group reported more depressive and anxious symptoms than controls, and a higher percentage of them had neuropsychiatric diagnosis. Everyday executive functioning difficulties and emotion dysregulation were the most influential transdiagnostic risk factors for poorer functioning within the NDC group network.
DEVELOPMENTAL NEUROPSYCHOLOGY
(2023)
Article
Medicine, General & Internal
Leonie Segal, Jonathan Green, Asterie Twizeyemariya, Kristelle Hudry, Ming Wai Wan, Josephine Barbaro, Teresa Iacono, Kandice J. Varcin, Sarah Pillar, Matthew N. Cooper, Wesley Billingham, Gemma Upson, Andrew J. O. Whitehouse
Summary: This study estimated the economic cost impact of the iBASIS-VIPP intervention on the Australian government and found that it could save healthcare costs. Compared with usual care, the iBASIS-VIPP intervention reduced disability support costs for children diagnosed with ASD at the age of 3. The findings suggest that iBASIS-VIPP represents a valuable societal investment for supporting neurodivergent children.
Article
Psychology, Educational
Filippo Abbondanza, Philip S. Dale, Carol A. Wang, Marianna E. Hayiou-Thomas, Umar Toseeb, Tanner S. Koomar, Karen G. Wigg, Yu Feng, Kaitlyn M. Price, Elizabeth N. Kerr, Sharon L. Guger, Maureen W. Lovett, Lisa J. Strug, Elsje van Bergen, Conor V. Dolan, J. Bruce Tomblin, Kristina Moll, Gerd Schulte-Koerne, Nina Neuhoff, Andreas Warnke, Simon E. Fisher, Cathy L. Barr, Jacob J. Michaelson, Dorret I. Boomsma, Margaret J. Snowling, Charles Hulme, Andrew J. O. Whitehouse, Craig E. Pennell, Dianne F. Newbury, John Stein, Joel B. Talcott, Dorothy V. M. Bishop, Silvia Paracchini
Summary: The association between handedness and language-related disorders has been extensively studied. However, the inconsistent findings may be attributed to factors such as small sample sizes, publication bias, and variation in study criteria. This study examined the frequency of non-right-handedness (NRH) in individuals with reading and/or language impairment and found a higher prevalence compared to controls. Meta-analysis results further supported the association between NRH and language/reading impairments, suggesting shared underlying pathways between brain lateralization, handedness, and cognitive functions.
Article
Psychology, Developmental
Thomas W. W. Frazier, Andrew J. O. Whitehouse, Susan R. R. Leekam, Sarah J. J. Carrington, Gail A. A. Alvares, David W. W. Evans, Antonio Y. Y. Hardan, Mirko Uljarevic
Summary: The purpose of this study was to compare the reliability derived from item response theory analyses for various autism instruments. The results showed generally good reliability for total scores on all measures, although the reliability was weaker for specific subscales. For diagnostic measures, the reliability was very good in distinguishing ASD and non-ASD cases. For parent-report scales, the reliability of total scores was excellent across a wide range of autism symptom levels, with a few exceptions.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Developmental
Antonina Loncarevic, Murray T. Maybery, Josephine Barbaro, Cheryl Dissanayake, Jonathan Green, Kristelle Hudry, Teresa Iacono, Vicky Slonims, Kandice J. Varcin, Ming Wai Wan, John Wray, Andrew J. O. Whitehouse
Summary: This study found that in families with infants showing early signs of autism, the associations between parent characteristics (psychological distress; aloofness) and child autistic behaviors may be mediated by the child's inattentiveness or negative affect during interactions. These findings have important implications for developing and implementing interventions targeting the synchrony of parent-child interaction to support children's social communication development.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Developmental
Hannah Waddington, Hannah Minnell, Lee Patrick, Larah van der Meer, Ruth Monk, Lisa Woods, Andrew J. O. Whitehouse
Summary: This study investigated the perspectives of 87 autistic adults, 159 parents of autistic children, and 80 clinical professionals on support goals for young autistic children. The highest priority goals across participant groups were related to the adult supporting the child, the reduction and replacement of harmful behaviors, and improving child quality of life. Goals related to child autism characteristics, play, and academic skills were rated as the lowest priority.
Article
Psychology, Developmental
Chelo Del Rosario, Elizabeth Nixon, Jean Quigley, Andrew J. O. Whitehouse, Murray T. Maybery
Summary: This study investigated the association between parent-child interactions and developmental outcomes for infants with typical and elevated likelihood of autism. The results showed differences in the intensity of mutuality and developmental outcomes between the two groups.
INFANT BEHAVIOR & DEVELOPMENT
(2023)
Article
Psychology, Social
Jack D. Brett, Rodrigo Becerra, Andrew Whitehouse, David A. Preece, Murray T. Maybery
Summary: Individuals with pronounced autistic traits struggle with cognitive empathy and may show different levels of affective empathy for positive and negative emotions. Alexithymia and emotion dysregulation help explain these differences, while gender plays a moderating role.
PERSONALITY AND INDIVIDUAL DIFFERENCES
(2024)