Neurodevelopmental Disorder
Types. Neurodevelopmental disorders are impairments of the growth and development of the brain and/or central nervous system. A narrower use of the term refers to a disorder of brain function that affects emotion, learning ability, self-control and memory which unfolds as an individual develops and grows.
Cluster Number:
Wiki Number: PW131
Diagnosis: Neurodevelopmental Disorders
US Patients:
World Patients:
Sex Ratio:
Age Onset:
Brain Area:
Symptoms: a general title for fetal difficulties and damages to the brain and central nervous system:limits emotion, learning, control, etc.
Progression: many disorders, spectra and syndromes. Genetic testing after birth is needed to confirm their occurrences.
Causes: Romanian orphanages left social and language depriviation; genetics (Down and Fragile X Syndromes; immunie reactions; infectious
Medications: diseases; metabolic or nutrition disorders; physical traumas causing brain injuries within the placentas
Therapies:
4 CURRENT ARTICLES
FROM PUBMED
The world-wide medical research
reports chosen for each diagnosis
Clicking each title opens the
PubMed article’s summary-abstract.
- KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismby Francesco Miceli on July 3, 2022
BACKGROUND: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional properties associated with KCNQ2 missense variants R144W, R144Q, and R144G. We also explored in vitro blockade of channels carrying R144Q mutant subunits by amitriptyline.
- Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case seriesby Nadia Ronzano on July 3, 2022
CONCLUSION: EEG should be taken into consideration in the first-line diagnostic flowchart of subjects with PTEN variants. The onset of a focal epilepsy, independently from its response to antiepileptic drugs, highly recommends to carry out a neuroimaging exam.
- Attention deficit and hyperactivity disorder disrupts selective mechanisms of actionby Olivier A Coubard on July 3, 2022
CONCLUSIONS: ADHD disrupts two mechanisms of action: it reduces the gain of the decision signal, thus explaining slowness and variability; it quickens the decision process of early responses at the origin of short-latency but controlled movements.
- Pregnancy in a patient with caudal regression syndrome following continent bladder reconstructionby Yuki Shigenobu on July 2, 2022
Caudal regression syndrome (CRS) is rare congenital malformation, which is characterized by abnormal development of the lower end of the spine and complicated with neurodevelopmental disorders of vesico-rectal functions and the lower extremities. We report the case of a woman with CRS who became pregnant and gave birth following continent bladder reconstruction (CBR) for intractable urinary incontinence. A 25-year-old primigravida woman with CRS became pregnant naturally and was referred to our...