ALLMedicine™ Intellectual Disability Center

May 19th, 2022 - This report presents the prevalence of mental and substance use disorders around the world discussing the impact of geographical, sociodemographic, and income characteristics on national epidemiological differences. We analysed data from the Insti...

May 19th, 2022 - We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID) and/or epilepsy by whole-exome sequencing. These variants comprised of two nonsense and four missense alterations, were functi...

May 16th, 2022 - This study examines mental, neurological, and substance use (MNS) service usage within refugee camp primary health care facilities in low- and middle-income countries (LMICs) by analyzing surveillance data from the United Nations High Commissioner...

May 16th, 2022 - Women with Intellectual disability have many problems in their sexual and reproductive health due to their special mental and physical conditions caused by disability. This study aimed to develop and evaluate the psychometric properties of Sexual ...

May 15th, 2022 - When a de novo balanced reciprocal translocation is identified in patients with multiple congenital abnormalities, attempts are often made to infer the relationship between the phenotype of the patient and genes in the proximity of the breakpoint....

May 1st, 2021 - Intellectual disability (intellectual developmental disorder) (ID/IDD) is both a psychiatric disorder and a risk factor for co-occurring psychiatric disorders in children and adolescents. DSM-5 introduced important changes in the conceptualization...

Nov 18th, 2020 - Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy...

Sep 28th, 2013 - Microarray methodologies, including array comparative genomic hybridization and single-nucleotide polymorphism-detecting arrays, are accepted as an appropriate first-tier test for the evaluation of imbalances associated with intellectual disabilit...

Oct 1st, 2011 - In order to address the major impact on quality of life and epilepsy management caused by associated neuropsychiatric conditions, an international consensus group of epileptologists met with the aim of developing clear evidence-based and practice-...

Jun 18th, 2011 - Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of th...

May 13th, 2022 - Propionic acidemia (PA) is one of the most common inborn errors of organic acid metabolism. Although this disorder is now routinely detected in the immediate neonatal period on the US newborn screen, clinical outcomes are poor despite timely and a...

May 10th, 2022 - Soon after birth, all babies born in the United States have a newborn screening (NBS) test to check for certain medical conditions. All babies are screened, even if they appear healthy, because most of these conditions have no obvious physical fin...

May 9th, 2022 - Background: Children with intellectual disability (ID) might be more vulnerable to obesity than their counterparts in the general population. This study aimed to evaluate the effectiveness of an adapted physical activity (APA) program in reducing ...

May 6th, 2022 - Introduction : Intellectual Disability (ID) is the most common cause of referral in the pediatric genetic centers and is characterized by an extreme genetic heterogeneity corresponding to a myriad of rare diseases that complicates the identificati...

Mar 29th, 2022 - This study is a randomized, double-blind, placebo-controlled, crossover trial of extended-release liquid methylphenidate (XRMPH) to evaluate the sensitivity of the NIH Toolbox Cognition Battery (NIHTB-CB) to changes in cognition in children and ad...

Apr 6th, 2022 - Trofinetide (Acadia Pharmaceuticals) is effective in improving symptoms in girls and young women with Rett syndrome (RTT), a rare and devastating neurodevelopmental disorder, results from a phase 3 study suggest. Dr Jeffrey Neul "In a severe disor...

Mar 29th, 2022 - Adults with pre-existing dementia or disability who suffer acute ischemic stroke can benefit from endovascular therapy (EVT) or thrombolysis, the American Heart Association (AHA)/American Stroke Association (ASA) says in a scientific statement rel...

Mar 29th, 2022 - The US Food and Drug Administration (FDA) has approved fenfluramine (Fintepla) oral solution, a Schedule IV controlled substance, for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS) in children aged 2 years and older, the c...

Feb 18th, 2022 - The study covered in this summary was published on SSRN.com as a preprint and has not yet been peer reviewed. Key Takeaway Children with intellectual disability with a genetic origin have an enhanced risk for developing neuropsychiatric disorders ...

Feb 16th, 2022 - A practice guideline update from the ENT community on tympanostomy tubes in children reaffirms that tube insertion should not be considered in cases of otitis media with effusion (OME) lasting less than 3 months, or in children with recurrent acut...