ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Policy into practice: an experience of Higher Education Link in Child and Adolescent Psychiatry [PDF]
Aim: The main aim of the Child and Adolescent Overseas Working Party has been to support the development of services in low-income countries through enhancing their training capacity.
Bretherton, Karen +4 more
core
Systematic review and meta-analysis: anxiety and depressive disorders in offspring of parents with anxiety disorders [PDF]
Objective: We conducted meta-analyses to assess risk of anxiety disorders among offspring of parents with anxiety disorders and to establish whether there is evidence of specificity of risk for anxiety disorders as opposed to depression in offspring, and
Creswell, Cathy +2 more
core +1 more source
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
Practitioner review: Borderline personality disorder in adolescence: Recent conceptualization, intervention, and implications for clinical practice [PDF]
The past decade has seen an unprecedented increase in research activity on personality disorders in adolescents. The increase in research activity, in addition to major nosological systems legitimizing the diagnosis of borderline personality disorder ...
Fonagy, P, Sharp, C
core +1 more source
Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund +3 more
wiley +1 more source
From clinical application to cognitive enhancement: the example of methylphenidate [PDF]
Methylphenidate (MPD) is a central nervous system (CNS) stimulant, which belongs to the phenethylamine group and is mainly used in the treatment of attention deficit hyperactive disorder (ADHD).
Busardo', FRANCESCO PAOLO +4 more
core +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Electroconvulsive Therapy in Child and Adolescent Psychiatry
Electroconvulsive therapy (ECT) is one of the effective treatment methods which was used in treatment of childhood and adolescent psychiatry. Although the effects and side effects of ECT intervention in child and adolescent psychiatry is similar adult ...
Gül Dikeç, Duygu Özer
doaj
Objectives: Recent studies show emotional and behavioral problems in toddlerhood affecting later stages of development. However, the predictive factors for psychiatric disorders were not studied with machine learning methods.
Mirac Baris Usta +12 more
doaj +1 more source

