ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction; however, little is known about parent perceptions of risk to their children in the presymptomatic period. 31764985 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE We aimed to develop and internally validate a scoring system, the adult spinal deformity surgical decision-making (ASD-SDM) score, to guide the decision-making process for ASD patients aged above 40 years. 31317308 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE The aim of this study is to investigate the association between prematurity and diagnosis of neurodevelopmental disorders (ND) (attention deficit/hyperactivity disorder [ADHD] or autism spectrum disorder [ASD]) in Brazilian children and adolescents. 31552529 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE The findings of this study suggest that the aforementioned five reported ASD genes and JAK2 and MAPK7 may be related to ASD susceptibility. 31838722 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Using a functional genomics approach, we integrated transcriptomic data from the developing human brain, genome-wide association findings for SCZ and ASD, protein interaction data, and gene expression signatures from SCZ and ASD postmortem cortex to 1) organize genes into the developmental cellular and molecular systems within which they operate, 2) identify neurodevelopmental processes associated with polygenic risk for SCZ and ASD across the allelic frequency spectrum, and 3) elucidate pathways and individual genes through which 22q11.2 copy number variants may confer risk for each disorder. 31500805 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Here, we aimed to investigate differences in functional brain network integrity between traditional diagnostic categories (autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], typically developing [TD]) and carefully consider the impact of comorbid ASD and ADHD on functional brain network integrity in a sample adequately powered to detect large effects. 30708240 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Parents of 5- to 12-year-old children (half had been diagnosed with autism spectrum disorder [ASD] and half were typically developing) provided reports of the most significant marital conflict of the day and ratings of child behaviors problems on a daily basis for 14 days. 30407023 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Participants included 100 preschoolers (M<sub>age</sub> = 4.73, 75% Male, 79% Hispanic) including 37 with autism spectrum disorder and attention-deficit/hyperactivity disorder (ASD+ADHD), 32 with ADHD-only, and 31 typically developing children. 30973019 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE A total of 144 toddlers (40 typically developing, 58 with autism spectrum disorder [ASD], 46 with developmental delay [DD]) participated at 24 and 31 months. 28991358 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Autism Spectrum Disorder Decision Tree Subgroups Predict Adaptive Behavior and Autism Severity Trajectories in Children with ASD. 30511124 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE A parent or legal guardian reported neurodevelopmental concerns in 4 domains (speech, learning and attentional difficulties, and autism spectrum disorder [ASD]) and completed the Personal Adjustment and Role Skills Scale to assess psychosocial adjustment. 31594858 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Results revealed a pragmatic continuum with significantly better scores for HR-TD than HR-BAP or HR-ASD, and HR-BAP than HR-ASD. 30488153 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE To investigate possible correlates of generalised anxiety disorder (GAD) in young males with ASD, a test of the mediation effects of sensory features (SF) upon the association between ASD symptoms and GAD was conducted with 150 males aged 6 to 18 years. 30771129 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE Giant ankyrin-B (ankB) is a neurospecific alternatively spliced variant of <i>ANK2</i>, a high-confidence autism spectrum disorder (ASD) gene. 31285321 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. 31542846 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE We included 2- to 5-year-old children whose parent completed all items on the Children's Sleep Habits Questionnaire (CSHQ) in a multisite case-control study: 522 children with ASD; 228 children with other developmental delays and disorders with autism spectrum disorder characteristics (DD w/ASD); 534 children with other developmental delays and disorders without autism spectrum disorder characteristics (DD w/o ASD); and 703 POP. 30745433 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE To examine Facial Emotion Recognition (FER) and visual scanning behavior (eye-tracking) during FER in women long-term recovered from teenage-onset anorexia nervosa (recAN) with and without autism spectrum disorderASD) and age-matched comparison women (COMP), using a sensitive design with facial emotion expressions at varying intensities in order to approximate real social contexts. 30828832 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE The results suggest that caution be exercised in generalizing findings from ASD-sib samples to other samples of children with ASD. 30663862 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE In addition, this study has characterized for the first time the biological role of the ASD-associated genes across brain regions, neurodevelopmental stages, and ASD gene-expression datasets. 31447886 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Heart rate variability (HRV) has been separately shown to be associated with ASD symptomatology, psychological wellbeing and emotion regulation (ER) in specific samples consisting of either individuals with ASD, those without ASD, or combined. 30578793 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Infants with an older sibling with an Autism Spectrum Disorder diagnosis (Sibs ASD) are at high risk for language delay (LD) as well as infants born preterm, especially those with an extremely low gestational age (ELGA, GA ≤ 28 weeks). 31649572 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). 30382442 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE One hundred children, aged 3-12 y, diagnosed as Autistic spectrum disorder; ASD (DSM-V) and 100 age and sex matched controls were studied. 31612302 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE At the group-level, we observed weaknesses in the language skills of boys with <sub>n</sub>ASD relative to those with FXS (e.g., when considering raw score performance, standard score performance relative to nonverbal cognitive skills, frequency of talk in play), after controlling for nonverbal IQ and ASD symptom severity. 30783899 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Most ASD genes encode synaptic proteins, suggesting that ASD are connectivity pathologies. 30446768 2019