Sensory processing in 16p11.2 deletion and 16p11.2 duplication
Sign Up to like & getrecommendations! Published in 2022 at "Autism Research"
DOI: 10.1002/aur.2802
Abstract: Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. However,… read more here.
Keywords: 16p11 deletion; 16p11 duplication; sensory processing;
Altered structural brain connectivity involving the dorsal and ventral language pathways in 16p11.2 deletion syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Brain Imaging and Behavior"
DOI: 10.1007/s11682-018-9859-3
Abstract: Copy number variants at the chromosomal locus 16p11.2 contribute to neurodevelopmental disorders such as autism spectrum disorders, epilepsy, schizophrenia, and language and articulation disorders. Here, we provide detailed findings on the disrupted structural brain connectivity… read more here.
Keywords: connectivity; language; brain; 16p11 deletion ... See more keywords
SA25 AN INHERITED DISTAL 16P11.2 DELETION DEMONSTRATES VARIABLE EXPRESSIVITY AND INCOMPLETE PENETRANCE FOR PSYCHIATRIC ILLNESS AS WELL AS ASSOCIATION WITH RHIZOMELIC SHORTENING: A CASE REPORT
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.097
Abstract: Background The most commonly reported 16p Copy Number Variant (CNV) - 16p11.2 deletion syndrome (16pDS) (~600 kb; 29.5 -30.1 Mb) – has been robustly associated with schizophrenia (SZ), as well as Intellectual Disabilities (ID)/Developmental Delays (DD), congenital… read more here.
Keywords: distal 16p11; rhizomelic shortening; deletion; report ... See more keywords
Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-1863-1798
Abstract: Microdeletion in the 16p11.2 loci lead to a distinct neurodevelopmental disorder with intellectual disability and autism spectrum disorder in addition to dysmorphia, macrocephaly and increased body mass index (BMI). One of the deleted genes in… read more here.
Keywords: haploinsufficiency prrt2; hemiplegic migraine; familial hemiplegic; migraine ... See more keywords
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Autism"
DOI: 10.1186/s13229-020-00410-w
Abstract: Background Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these disorders. In this study, we explored the sensory… read more here.
Keywords: taste; asd children; processing; touch olfaction ... See more keywords
Structural and Lipidomic Alterations of Striatal Myelin in 16p11.2 Deletion Mouse Model of Autism Spectrum Disorder
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2021.718720
Abstract: Myelin abnormalities have been observed in autism spectrum disorder (ASD). In this study, we seek to discover myelin-related changes in the striatum, a key brain region responsible for core ASD features, using the 16p11.2 deletion… read more here.
Keywords: spectrum disorder; myelin; mouse model; 16p11 deletion ... See more keywords
Case Report: The Association Between Chromosomal Anomalies and Cluster A Personality Disorders: The Case of Two Siblings With 16p11.2 Deletion and a Review of the Literature
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Psychiatry"
DOI: 10.3389/fpsyt.2021.689359
Abstract: Although several studies have shown the correlation between chromosomal rearrangements and the risk of developing psychotic disorders, such as schizophrenia, little attention has been given to identifying the genetic basis of pre-disposing personality so far.… read more here.
Keywords: cluster personality; case; association; deletion ... See more keywords