Skip to main content
7404 search results for:

Severe Disorder of Intellectual Development 

sort by |
"newest" sorts results by publication date. "most relevant" also considers factors like how often the search phrase is in the result.
  1. Open Access 01-12-2024 | Dental Findings | OriginalPaper

    Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations

    Pitt-Hopkins syndrome (PTHS) is a rare autosomal dominant neurodevelopmental disorder that was described for the first time in 1978. The Australian pediatricians David Pitt and Ian Hopkins, during a survey of 782 individuals with learning …

  2. 01-04-2024 | Vaccination | News

    AZD-1222

    Generalised tonic-clonic seizure
  3. 01-04-2024 | Latanoprost | News

    Dorzolamide/timolol/latanoprost

    Lack of efficacy
  4. Open Access 01-12-2024 | Disorders of Intellectual Development | OriginalPaper

    Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study

    Kabuki Syndrome (KS) is a rare genetic disease often caused by two pathogenic genes, KMT2D (MIM*602113) and KDM6A (MIM*300128), with coding for histone methylase and histone demethylase, respectively [ 1 , 2 ]. KMT2D causes KS type 1 (KS1, MIM# …

  5. Novel biallelic frameshift in TRPM7 gene causes Hallermann–Streiff syndrome in a consanguineous family: a case report

    We present the case of a 10-year 6-month-old boy who was referred to neurological consultant clinic at Psychiatry Department, BBH, Rawalpindi with history of cognitive impairment, severe intellectual disability, and speech delay. His ophthalmic …

  6. Open Access 01-12-2021 | Disorders of Intellectual Development | OriginalPaper

    Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

    The Raynaud-Claes type of X-linked syndromic mental retardation (MRXSRC, OMIM: 300114) is a rare X-linked intellectual developmental disorder characterized by borderline to severe intellectual disability (ID) and impaired language development.

  7. 22-05-2024 | Online First

    XIV National Congress SISMES

  8. Open Access 01-12-2024 | Autism Spectrum Disorder | ReviewPaper

    School refusal behavior in children and adolescents: a five-year narrative review of clinical significance and psychopathological profiles

    The aim of the study was to explore the clinical significance of school refusal behavior, its negative impact on psychological well-being of children and adolescents and its relationship with the most common psychopathological conditions during …

  9. 11-05-2024 | Disorders of Intellectual Development | Online First

    Label free quantitative proteomic profiling of serum samples of intellectually disabled young patients revealed dysregulation of complement coagulation and cholesterol cascade systems

    Intellectual disability is a heterogeneous disorder, diagnosed using intelligence quotient (IQ) score criteria. Currently, no specific clinical test is available to diagnose the disease and its subgroups due to inadequate understanding of the …

  10. Open Access 01-12-2024 | Epigenetics | OriginalPaper

    Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends

    KAT6A syndrome (Arboleda-Tham syndrome; MIM: 616,268) is a rare Mendelian disorder of epigenetic machinery (MDEM), a class of relatively newly defined neurodevelopmental disorders that result from mutations in genes dedicated to encoding epigenetic …

  11. 17-05-2024 | Online First

    Diagnostic staging and stratification in psychiatry and oncology: clarifying their conceptual, epistemological and ethical implications

    Staging and stratification are two diagnostic approaches that have introduced a more dynamic outlook on the development of diseases, thus participating in blurring the line between the normal and the pathological. First, diagnostic staging, aiming …

  12. 25-05-2024 | Disorders of Intellectual Development | Online First

    Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability

    Primary microcephaly is a rare neurogenic and genetically heterogeneous disorder characterized by significant brain size reduction that results in numerous neurodevelopmental disorders (NDD) problems, including mild to severe intellectual

  13. 12-04-2024 | Epilepsy | ReviewPaper

    Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights

    Pathogenic variants in genes encoding ion channels are causal for various pediatric and adult neurological conditions. In particular, several epilepsy syndromes have been identified to be caused by specific channelopathies. These encompass a …

  14. Open Access 01-12-2024 | Autism Spectrum Disorder | OriginalPaper

    Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

    Neurodevelopmental delay (NDD) is a group of common neurological diseases with high clinical heterogeneity during childhood [ 1 ] and affects approximately 1%–3% of children worldwide, resulting in an average lifetime cost of $1 million to support …

  15. Open Access 01-12-2024 | Avoidant-Restrictive Food Intake Disorder | OriginalPaper

    An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty

    ASXL3 -related disorders are characterized by intellectual disability and/or developmental delay (99%), typically in the moderate to severe range, with speech and language delay and/or absent speech (100%) [ 1 – 4 ]. Affected individuals may also …

  16. Open Access 15-04-2024 | Disorders of Intellectual Development | Online First

    Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study

    Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients …

  17. 25-03-2024 | Tuberous Sclerosis | OriginalPaper

    Neuropsychiatric comorbidities in tuberous sclerosis complex patients with epilepsy: results of the TAND checklist survey

    Epilepsy of the tuberous sclerosis complex (TSC) is the most common neurological comorbidity. It is highly associated with cortical tubers, and affected individuals usually have comorbid cognition dysfunction [ 1 ]. Models of the cellular and …

  18. 17-05-2024 | Disorders of Intellectual Development | Online First

    Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients

    Recently, we and others identified CLCN4 variants as causal factors for complex neurodevelopmental disorders (NDDs) [ 1 – 6 ]. The phenotypic spectrum is highly variable, with developmental delay, various degrees of intellectual disability (ID) as …

  19. 01-10-2023 | Risperidone | News

    Risperidone

    Lack of efficacy and hyperprolactinaemia: case report
  20. Open Access 01-12-2024 | Dextromethorphan | OriginalPaper

    The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype

    Non-ketotic hyperglycinemia (NKH) is an ultra-rare (incidence 1/76,000 births) genetic, neurometabolic disorder caused by deficient enzyme activity of the glycine cleavage enzyme (GCE) (EC 1.4.4.2) due to mutations in GLDC encoding the P-protein or …AMT

Filter search results

Search Operators:

„ ... ... “ Finds documents with exactly this word group, in exactly this word order and spelling (e.g., "employer branding").
AND Finds documents with both search terms (e.g., sales AND bonus).
OR Finds documents with one or the other search term (e.g., porsche OR volkswagen).
Blank Space Finds documents with all search terms. Blank space is understood as AND (e.g., man robot production).
NOT Finds documents with no appearance of the word behind NOT (e.g., ford NOT "harrison ford").
COUNT(...)>n Finds documents where the search term is mentioned at least "n" times."n" may be any number (e.g., COUNT(gear)>8).
NEAR(..., ..., ) Finds documents with both search terms in any word order, permitting "n" words as a maximum distance between them. Best choose between 15 and 30 (e.g., NEAR(recruit, professionals, 20)).
* Finds documents with the search term in word versions or composites. The star * marks whether you wish them BEFORE, BEHIND, or BEFORE and BEHIND the search term (e.g., lightweight*, *lightweight, *lightweight*).
? Finds documents with the search termn in different spellings."?" allows only one character (e.g., organi?ation).
& + - Special characters are understood as AND (e.g., Miller Bros. & Sons).

You can use operators in your search query to narrow down your results even more.

Tap the operator, or hover the mouse pointer over it, to read more about how it works.