Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Correlation between maternal eating disorder and early infant feeding regulation: a cross -sectional study [PDF]
, 2021 Rachel F. Rodgers +3 more
openalex +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.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
Pitfalls in the diagnosis of eating disorders: a case series from infancy to adolescence
Eating and Weight DisordersPurpose Eating disorders, encompassing a spectrum of conditions, significantly affect individuals throughout their lifespan, especially children and adolescents. Because of their rising incidence, misdiagnosis remains a challenge in paediatrics.
Adele Fiordelisi +4 more
doaj +1 more source
Could dopamine agonists aid in drug development for anorexia nervosa? [PDF]
, 2014 Anorexia nervosa is a severe psychiatric disorder most commonly starting during the teenage-years and associated with food refusal and low body weight. Typically there is a loss of menses, intense fear of gaining weight, and an often delusional quality ...
Frank, Guido KW
core +2 more sources
Parental feeding practices and children's disordered eating among single parents and
, 2021 Rebecca C. Kamody, Janet A. Lydecker
openalex +2 more sources
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
The impact on the family of a child's feeding and swallowing problems: Associations with parental stress, and children's daily functional activities [PDF]
, 2011 Introduction: Eating and drinking are essential components of everyday life. Adequate nutrition and hydration need to be maintained for growth and development. Many social gatherings/events revolve around eating and drinking.
Miller, Alyssa
core
Family profiles in eating disorders: family functioning and psychopathology [PDF]
, 2017 Research has studied family functioning in families of patients suffering from eating disorders (EDs), particularly investigating the associations between mothers’ and daughters’ psychopathological symptoms, but limited studies have examined whether ...
Ballarotto, Giulia +5 more
core +1 more source
Probiotics Improve Eating Disorders in Mandarin Fish (Siniperca chuatsi) Induced by a Pellet Feed Diet via Stimulating Immunity and Regulating Gut Microbiota [PDF]
, 2021 Xiaoli Chen +9 more
openalex +1 more source