Results 81 to 90 of about 1,437,159 (301)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Neuronal Autophagy and Neurodevelopmental Disorders [PDF]

Experimental Neurobiology, 2013
Neurodevelopmental disorders include a wide range of diseases such as autism spectrum disorders and mental retardation. Mutations in several genes that regulate neural development and synapse function have been identified in neurodevelopmental disorders. Interestingly, some affected genes and pathways in these diseases are associated with the autophagy
Lee, Kyung-Min, Hwang, Su-Kyung, Lee, Jin-A   +2 more
openaire   +2 more sources

Reading and language disorders : the importance of both quantity and quality [PDF]

, 2014
Reading and language disorders are common childhood conditions that often co-occur with each other and with other neurodevelopmental impairments. There is strong evidence that disorders, such as dyslexia and Specific Language Impairment (SLI), have a ...
Newbury, Dianne F, Paracchini, Silvia, Monaco, AP, Anthony Monaco, Monaco, Anthony P, Paracchini, S, Dianne Newbury, Silvia Paracchini, Newbury, DF   +8 more
core   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Multi-Method Assessment of Sleep in Children With Angelman Syndrome: A Case–Controlled Study

Frontiers in Psychiatry, 2019
Objectives: To assess sleep quality and timing in children with Angelman syndrome (AS) with sleep problems using questionnaires and actigraphy and contrast sleep parameters to those of typically developing (TD) children matched for age and sex.Methods ...
Jayne Trickett, Jayne Trickett, Chris Oliver, Mary Heald, Mary Heald, Hayley Denyer, Hayley Denyer, Andrew Surtees, Andrew Surtees, Emma Clarkson, Emma Clarkson, Paul Gringras, Caroline Richards   +12 more
doaj   +1 more source

Immunization Patterns of Children with Chronic Neurological and Neurodevelopmental Disorders: A Cross-Sectional Study from Istanbul

Background/Objectives: Children with chronic neurological and neurodevelopmental disorders (CNDD) constitute a medically vulnerable population in whom routine childhood immunization may be interrupted because of clinical complexity and parental concerns.
Rabia Gönül Sezer Yamanel, Merve İşeri Nepesov, Nilüfer Eldeş Hacıfazlıoğlu, Emek Uyur, Nihan Uygur Külcü   +4 more
core   +1 more source

The association between ADHD and physical health: a co-twin control study

Scientific Reports, 2020
Attention-deficit/hyperactivity disorder (ADHD) has been associated with increased risk for physical comorbidity. This study used a twin cohort to investigate the association between physical diseases and phenotypic variations of ADHD.
Pei-Yin Pan, Sven Bölte
doaj   +1 more source

Sleep Disorders in Children with Rett Syndrome

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder marked by neurological regression, autonomic dysfunction, seizures, and significant sleep and breathing abnormalities. About 80% of affected individuals, especially young children, experience
Manisha Witmans, Shannon S. Sullivan, Mary Anne Tablizo, Christopher Harner, Lourdes M. DelRosso, Thomas A. Gaffey   +5 more
core   +1 more source