Development of the Angelman syndrome video assessment: quantifying meaningful change [0.03%]
天使人综合症视频评估的发展：量化有意义的变化
Kriszha A Sheehy,Mindy G Leffler,Rebecca J Woods et al.
Kriszha A Sheehy et al.
Background: The Angelman Syndrome Video Assessment (ASVA) is a clinician-reported outcome measure that was developed to assess the functional ability of individuals with Angelman Syndrome (AS) in a familiar environment. T...
Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome [0.03%]
FOXG1综合征的临床、发育和行为表型的纵向特征（101名儿童及成人）
Elise Brimble,Pam Ventola,Elizabeth Blomenberg et al.
Elise Brimble et al.
Background: FOXG1 syndrome is a severe genetic neurodevelopmental disorder characterized by intellectual and developmental disabilities (IDD), postnatal microcephaly, epilepsy, and movement disorder. With the advent of mo...
Functional connectivity patterns differ as a function of co-occurring attentional problems in preschoolers with autism [0.03%]
学龄前自闭症儿童的注意缺陷与功能连接模式的关系
Alex Boxberger,Bosi Chen,Lindsay Olson et al.
Alex Boxberger et al.
Background: Symptoms of attention-deficit/hyperactivity disorder (ADHD) are common in children with autism spectrum disorder (ASD), and are associated with greater developmental challenges, poorer clinical outcomes, and a...
Evidence of neurocognitive and resting state functional connectivity differences in carriers of NRXN1 deletions [0.03%]
NRXN1缺失携带者的神经认知和静息态功能连接差异证据
Jacqueline Fitzgerald,Ciara J Molloy,Thomas Dinneen et al.
Jacqueline Fitzgerald et al.
Background: NRXN1 deletion (NRXN1 del) is a rare copy number variant associated with several neurodevelopmental, neuropsychiatric, and cognitive outcomes. The NRXN1 gene encodes for a pre-synaptic cell adhesion molecule t...
Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis [0.03%]
遗传性神经发育障碍的精神病护理临床决定因素：横断面分析
David J Adams,Alexandra M Klomhaus,Nicole R Wong et al.
David J Adams et al.
Jessica Martin,Alkistis Mavrogalou-Foti,Josefine Eck et al.
Jessica Martin et al.
Background: Pathogenic CASK variants are associated with neurodevelopmental disorders of variable severity including X-linked intellectual disability (XLID) and microcephaly with pontocerebellar hypoplasia (MICPCH). Altho...
Jessica Martin,Alkistis Mavrogalou-Foti,Josefine Eck et al.
Jessica Martin et al.
Background: Pathogenic CASK variants are associated with neurodevelopmental disorders of variable severity including X-linked intellectual disability (XLID) and microcephaly with pontocerebellar hypoplasia (MICPCH). Altho...
Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome [0.03%]
天使人综合症小鼠模型中求偶和压力超声波发声异常
Caleigh D Guoynes,Grace Pavalko,Michael S Sidorov
Caleigh D Guoynes
Background: Angelman syndrome (AS) is a single-gene neurodevelopmental disorder caused by loss of function of the maternal copy of the UBE3A gene. Nearly all individuals with AS lack speech, resulting in major impacts on ...
The association between infant EEG aperiodic exponent and the trajectory of restricted and repetitive behaviors for toddlers with and without autism [0.03%]
婴儿脑电图非周期指数与自闭症幼儿刻板重复行为的关系
Haerin Chung,Alex Job Said,Helen Tager-Flusberg et al.
Haerin Chung et al.
Background: Restricted and repetitive behaviors (RRB) are core features of autism but are also observed in typical development. Our understanding of the neural underpinnings of RRBs is limited. Given that excitation-inhib...
Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study [0.03%]
一份关于个体化遗传智力障碍患者重要报告结果的定性研究
Nadia Y van Silfhout,Maud M van Muilekom,Clara D van Karnebeek et al.
Nadia Y van Silfhout et al.
Background: To improve the quality of care and the impact of interventions for individuals with (genetic) intellectual disabilities ((G)ID), it is essential to identify and measure relevant patient reported outcomes (PROs...