Search results for "ONSET"

Age at symptom onset, diagnosis, and enzyme replacement therapy (ERT) initiation among family members with mucopolysaccharidosis II (Hunter Syndrome)…

2013

An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset Pompe disease

2015

1035 The International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice

2012

Background and Aim An international disease registry was started in September 2009 to evaluate the long-term disease course of NP-C in clinical settings. Methods Descriptive data from enrolment are presented for all patients with available data who were included in the Registry as of 19 th August 2011. Results 121 patients have been enrolled. The median (range) age at enrolment was 16.9 (0.9−56.6) years, age at onset of neurological manifestations was 8.2 ( Conclusions Over two-thirds of this NP-C cohort had infantile or juvenile onset of neurological manifestations; neonatal jaundice was observed more frequently in these patients versus adolescent/adult-onset patients.

Therapy Strategies for Usher Syndrome Type 1C in the Retina

2014

The Usher syndrome (USH) is the most common form of inherited deaf-blindness with a prevalence of ~ 1/6,000. Three clinical subtypes (USH1–USH3) are defined according to the severity of the hearing impairment, the presence or absence of vestibular dysfunction and the age of onset of retinitis pigmentosa (RP). USH1 is the most severe subtype with congenital severe to profound hearing loss and onset of RP before puberty. Currently only the amelioration of the hearing deficiency is implemented, but no treatment of the senso-neuronal degeneration in the eye exists.

Late-Onset Sarcoidosis in a 77-Year-Old Man

2015

International audience

Clinical Presentation of Patients with Adult Late-Onset Telomere Biology Disorders - Results from the Aachen Telomeropathy Registry

2021

Abstract Introduction: Telomere biology disorders (TBD) are caused by mutations affecting proper telomere maintenance resulting in premature telomere shortening. Telomere length (TL) assessment is currently being used for screening and diagnosis of TBD of which Dyskeratosis congenita (DKC) is the most prominent TBD subtype typically found in children and adolescents. In adults, TBDs are characterized by a broad spectrum of more "cryptic" diverging mono- or oligosymptomatic clinical manifestations such as bone marrow failure (BMF), hepatopathy or interstitial lung disease (ILD). However, despite growing general clinical awareness and exertion of improved TL screening strategies, insufficient…

Academic skills in children with early-onset type 1 diabetes: the effects of diabetes-related risk factors

2012

Aim  The study aimed to assess the effects of diabetes-related risk factors, especially severe hypoglycaemia, on the academic skills of children with early-onset type 1 diabetes mellitus (T1DM). Method  The study comprised 63 children with T1DM (31 females, 32 males; mean age 9y 11mo, SD 4mo) and 92 comparison children without diabetes (40 females, 52 males; mean age 9y 9mo, SD 3mo). Children were included if T1DM had been diagnosed before the age of 5 years and if they were aged between 9 and 10 years at the time of study. Children were not included if their native language was not Finnish and if they had a diagnosed neurological disorder that affected their cognitive development. Among th…

Early Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study.

2020

Objective: To analyze those factors contributing to the diagnostic delay in ALS.Methods: Consecutive ALS patients were categorized as those studied in departmental hospitals and those studied in a referral ALS center. Demographic and clinical variables, together with data of the diagnostic pathway were collected. Multivariable models were used to assess their effect in the time between symptoms onset and the first neurologist visit (time symptoms-neurologist), in the time between the first neurologist visit and the diagnosis (time neurologist-diagnosis) and in the diagnostic delay.Results: 166 ALS patients with a median diagnostic delay of 11.53 months (IQR: 6.68, 15.23) were included. The …

Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease?

2021

Effectiveness and safety of dexamphetamine sulfate (Attentin

2021

Abstract Background: Randomized controlled trials have shown that dexamphetamine sulfate (DEX) is efficacious in the treatment of attention-deficit/hyperactivity disorder (ADHD) in children and adolescents; however, data on the effectiveness and safety of DEX in routine practice are scarce. Objective: This study investigated the long-term effectiveness and safety of Attentin® (immediate-release DEX) in children and adolescents with ADHD in routine practice. Methods: ATTENTION was a multicenter, prospective, observational, non-interventional study that enrolled pediatric patients with ADHD (aged 6-17 years) with a clinically inadequate response to previous methylphenidate (MPH) treatment. Pa…