Results 31 to 40 of about 8,028 (167)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

How effective is family counselling on screen exposure of pre-school children?

The Turkish Journal of Pediatrics, 2021
Background. Excessive screen viewing and background TV exposure are common problems all over the world. Therefore, intervention studies have gained importance.
Evin İlter Bahadur, Pınar Zengin Akkuş, Tuba Çelen Yoldaş, Elif Nursel Özmert   +3 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Probable Risk Factors in Children and Adolescents with Neurodevelopmental and Non-Neurodevelopmental Psychiatric Disorders in a Large Turkish Clinical Sample

Southern Clinics of Istanbul Eurasia, 2019
INTRODUCTION[|]This study is aimed to compare socio-demographic variables, perinatal characteristics, developmental stages, comorbid medical illnesses between children and adolescents with neurodevelopmental psychiatric disorders and non ...
Yasemin Yulaf, Funda Gümüştaş, Haydeh Faraji   +2 more
doaj   +1 more source

Caregivers’ Burden of School-Aged Children with Neurodevelopmental Disorders: Implications for Family-Centred Care

Brain Sciences, 2021
Caregivers of children with neurodevelopmental disorders play a central role during the rehabilitation and education processes, but they have an increasing risk of psychosocial problems even if the literature is not so agreed upon the specific and ...
Giulia Purpura, Luca Tagliabue, Stefania Petri, Francesco Cerroni, Andrea Mazzarini, Renata Nacinovich   +5 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Mobile Media Exposure and Use in Children with and without Neurodevelopmental Disorder: A Comparative Analysis

Sakarya Üniversitesi Holistik Sağlık Dergisi
Objective: It was aimed in the study to evaluate and compare the purpose, frequency, and scope of mobile media use in children with neurodevelopmental disorder and those without neurodevelopmental disorder.
Emine Güneş Şan, Fatma Dinç, Aylin Kurt   +2 more
doaj   +1 more source

A literature review of sleep problems and neurodevelopment disorders

Frontiers in Psychiatry, 2023
IntroductionSleep is an incredibly complex process that goes beyond relaxing and body resting. Disturbance in sleep leads to several short-term and long-term consequences.
Abeer Al Lihabi
doaj   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source