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10 Possible Causes for Pediatric Disorder, Psychiatric Manifestation, Relative Macrocephaly in Childhood

  • Autistic Disorder

    CRS may lead to new physical symptoms during adolescence or adulthood, referred to as "late manifestations".[ncbi.nlm.nih.gov] Brain Overgrowth and Macrocephaly The findings of early postnatal brain “overgrowth” in ASD followed by normalization or relative growth arrest in childhood are intriguing[ncbi.nlm.nih.gov] In two, randomized, double-blind, placebo-controlled studies in pediatric patients aged 6-17 years with irritability associated with autistic disorder, 8 weeks of treatment[ncbi.nlm.nih.gov]

  • Fragile X Syndrome

    Fragile X syndrome: psychiatric manifestations, assessment and emerging therapies.[ncbi.nlm.nih.gov] Seizures have been reported in approximately 13% to 18% of affected males and 5% of females with a full mutation, and there may be relative macrocephaly.[pediatrics.aappublications.org] Pediatric Feeding Disorders Program - Provides assessment and treatment for children who have difficulty eating related to food selectivity, food refusal, and disruptive mealtime[urmc.rochester.edu]

  • Legius Syndrome

    Other studies showed that these duplications can manifest with dysmorphic features without a recognizable pattern, microcephaly, congenital anomalies (including torticollis[healthdocbox.com] The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[ncbi.nlm.nih.gov] Legius syndrome is one of the RASopathies, which are a class of pediatric disorders associated with genes that are members of the mitogen-activated protein kinase (Ras/ MAPK[invitae.com]

  • Spastic Paraplegia

    Non-neurological manifestations may include ophthalmological abnormalities (cataracts, retinitis pigmentosa, macular degeneration), and orthopedic abnormalities (scoliosis[orpha.net] Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov] On the pediatric side, genetics is driven by neurodevelopmental disorders (including autism, intellectual disability, and epilepsy) and genetics of rare recessive disorders[epilepsygenetics.net]

  • Autosomal Recessive Spastic Paraplegia Type 20

    […] psychological assessment as indicated Developmental assessment / cognitive testing as indicated depending on age and severity Annual assessment of orthopedic manifestations[ncbi.nlm.nih.gov] Journal Watch Pediatrics and Adolescent Medicine. October 17, 2007. Munns, C and Glass I. SHOX-related haploinsufficiency disorders.[aetna.com] , Germany) 32(5) 801-809 May 2017 [Refereed] Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation[researchmap.jp]

  • Macrocephaly - Intellectual Disability - Autism Syndrome

    Variation in associated cognitive, neurological, and psychiatric features is extensive.[medicalhomeportal.org] Seizures have been reported in approximately 13% to 18% of affected males and 5% of females with a full mutation, and there may be relative macrocephaly.[pediatrics.aappublications.org] Abstract Purpose: To assess the frequency of PTEN pathogenic variants in a cohort of pediatric subjects with autism spectrum disorder (ASD), intellectual disabilities (ID)[etd.ohiolink.edu]

  • X-linked Intellectual Disability Type Raymond

    manifestations.[uniprot.org] The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] […] treatments and interventions Covers neurological, neuropsychiatric, and neuromedical disorders across the lifespan (pediatric, adult, and geriatric populations) Includes[books.google.de]

  • Pseudohypoparathyroidism Type 1B

    […] disorders have been reported that are associated with hypoparathyroidism in general and with PHP in particular, often with overt clinical manifestations such as complaints[pediatricneurosciences.com] Many patients have relatively high birth weight and/or early-onset obesity that persists into childhood and later; relative macrocephaly and tall stature have also been observed[academic.oup.com] Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.com]

  • Opitz-Kaveggia Syndrome

    manifestations Psychopathology and related behavioral abnormalities are typically seen in LFS, and they may be considered in the diagnosis of the disorder. [7] The most common[wikiwand.com] The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com] […] treatments and interventions Covers neurological, neuropsychiatric, and neuromedical disorders across the lifespan (pediatric, adult, and geriatric populations) Includes[books.google.com]

  • Kondoh Syndrome

    Psychiatric manifestations including social inhibition or psychosis have been also noticed [ 19 , 20 ]. Dilatation of the cerebral ventricles is common.[ojrd.biomedcentral.com] In group 3, furthermore, the low prevalence of relative macrocephaly at birth appears to be discordant with the high prevalence of prominent forehead during early childhood[journals.plos.org] A Rare Overgrowth Disorder: Sotos Syndrome, Iran J Pediatr. 2017 ; 27(2):e6504. doi: 10.5812/ijp.6504. Copyright 2016, Growth & Development Research Center.[ijp.tums.pub]