Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals [books.google.com]

Peripheral neuropathy may be present and contribute to motor disability. MRI findings are consistent with hypomyelination with minimal or extremely slow myelination. Myelin is present in the internal capsule and is usually normal in the cerebellum. [rarediseases.org]

Strabismus may be present, and refractive errors, including hyperopia and astigmatism, are present in 23% to 50% of cases. Nystagmus and ptosis also are occasional ocular findings. [pediatrics.aappublications.org]

Intestinal polyps mostly present in childhood through chronic anemia, diarrhea or invagination of the small bowel. The signs and symptoms of BRRS are present from birth or become apparent in early childhood. [synapse.koreamed.org]

One patient, a 6-year-old male from a consanguineous family, presented with fine/gross motor delay, speech delay, learning disability, developmental regression and autistic features. [cags.org.ae]

• Disability

  De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics, 17 (1), 43-49. [experts.umich.edu]

  In addition, three quarters of ASD patients also manifest severe intellectual disability. [books.google.com]

  Intellectual disability and autism Most genes that have been identified as autism genes can also cause what is now termed intellectual disability. [fdna.health]

• Crying

  Pain Manifestations of pain in people with severe to profound MR/ID include crying, screaming, grimacing, protective postures (eg, arching, fetal position), rocking, and aggression. [misc.medscape.com]

  Compare the patient's current state to his or her baseline, with particular attention to crying spells, enjoyment of activities, interest in being around others, sleep patterns, appetite, and energy level. [medicalhomeportal.org]

• Malingering

  Biran-Gol Y., Malinger G., Cohen H. et al. Developmental outcome of isolated fetal macrocephaly // Ultrasound Obstet. Gynecol. — 2010. — 36. — Р. 147. Gleeson J., Dobyns W., Plawner L. et al. [inj.zaslavsky.com.ua]

• Nausea

  […] in mood stabilization, attention, and academic performance have been described with aripiprazole, which should be used at low doses to avoid agitation induced by higher doses. 23 However, adverse effects can include excessive weight gain, sedation, nausea [pediatrics.aappublications.org]

  SSRIs may cause nausea, drowsiness, gastrointestinal disturbance, agitation, behavioral activation, suicidal ideation, sleep disturbance or other symptoms. [medicalhomeportal.org]

• Vomiting

  Children with ASD suffer from gastrointestinal symptoms, such as constipation, diarrhea, vomiting, and abdominal pain, as often, and perhaps more often, than do other children. [medicalhomeportal.org]

  Feeding problems, which are common in infancy, and the presence of vomiting secondary to gastroesophageal reflux. Anticipatory Guidance Monitor growth parameters closely. [pediatrics.aappublications.org]

• Hypotension

  Symptoms begin in the fourth to fifth decade with autonomic dysfunction including bowel and bladder dysfunction and orthostatic hypotension with lightheadedness. This is followed by slowly progressive motor and balance difficulties. [rarediseases.org]

  Associated features include a peripheral neuropathy; parkinsonian manifestations; autonomic dysfunction such as incontinence, impotence, and orthostatic hypotension; progressive cognitive impairments that involve loss of memory and deficits in executive [pediatrics.aappublications.org]

  Additional possible adverse effects include, but are not limited to, dry mouth, hypotension, constipation, irritability, and cardiac arrhythmia. See also Alpha-2 Agonist Use in Children with Autism. [ Handen: 2008 ] [ Ming: 2008 ] Benzodiazepines. [medicalhomeportal.org]

• Macrocephaly

  De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics, 17 (1), 43-49. [experts.umich.edu]

  Therefore, other causes of macrocephaly in the fathers could not be ruled out (for example, familial macrocephaly or hydrocephaly). [jmg.bmj.com]

  Disease Ontology Browser macrocephaly-autism syndrome ( DOID:0060867 ) Alliance: disease page Synonyms: macrocephaly-intellectual disability-autism syndrome Alt IDs: OMIM:605309, ORDO:210548 Definition: An autosomal dominant disease characterized by macrocephaly [informatics.jax.org]

  Combined with data from our previous cohort, we have found PTEN mutations in 7/99 (7.1%) of individuals with ASD and 8/100 (8.0%) of individuals with MR/DD, all of whom had macrocephaly. [ncbi.nlm.nih.gov]

• Visual Impairment

  • Intellectual Disability • Visual Impairment • Cerebral Palsy • Parkinson’s Disease • Multiple Sclerosis • Spina Bifida & Hydrocephalus • Autism Spectrum • Mobility Aid • Mental Health Universal Fitness Innovation & Transformation (UFIT) is a movement [play.google.com]

  Boys with parieto-occipital lobe disease demonstrate visual and/or auditory processing abnormalities, impaired communication skills and gait disturbances prior to death. [rarediseases.org]

  […] with severe impairments. [misc.medscape.com]

• Hypertelorism

  Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism (an abnormally increased distance between the eyes), and downslanting [en.wikipedia.org]

  Coffin-Lowry syndrome This syndrome is characterized by hypertelorism, down-slanting palpebral fissures, frontal prominence, thickened lips and nasal septum, as well as dental and skeletal anomalies. [misc.medscape.com]

• Frontal Bossing

  bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. [informatics.jax.org]

• Staring Spells

  When a child has a seizure, there’s usually a temporary period of unconsciousness, a body convulsion, unusual movements or staring spells. [raisingchildren.net.au]

  Indications for obtaining an EEG include history of language regression, tonic/clonic activity, and staring spells that the child cannot be distracted from. [medicalhomeportal.org]

• Screaming

  Pain Manifestations of pain in people with severe to profound MR/ID include crying, screaming, grimacing, protective postures (eg, arching, fetal position), rocking, and aggression. [misc.medscape.com]

Recently, Cooper and colleagues 82 looked at data from 15,767 patients who had undergone array CGH analysis as part of the diagnostic workup. [nejm.org]

[…] the following: Bayley Scales of Infant Development Stanford-Binet Intelligence Scale Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R) Wechsler Intelligence Scale for Children–IV (WISC-IV) Vineland Adaptive Behavior Scales-II See Workup [misc.medscape.com]

The treatment of emotional and behavioral problems. In: FXS: Diagnosis, treatment, and research, 3rd ed, Hagerman, RJ, Hagerman, PJ (Eds), Johns Hopkins University Press, Baltimore 2002. p.339-362 22. Lachiewicz AM, Dawson DV. [intellectualdisability.info]

While most of these treatments have not been rigorously tested for safety and efficacy, there is growing interest in these treatments, with more studies looking into the possible benefits of CAM treatments. [medicalhomeportal.org]

Treatment is usually long term. It often involves medication. There are some behaviour treatments that work. [raisingchildren.net.au]

Identifying genetic causes is critical to tailoring treatments to the child. [spectrumnews.org]

Researchers hope to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD that may serve as treatment targets. [childrenshospital.org]

There aren't biochemical markers for the disease. [10] Treatment [ edit ] Treatment is symptomatic. [10] There is no standard course of treatment for Sotos syndrome. [ citation needed ] Prognosis [ edit ] Sotos syndrome is not a life-threatening disorder [en.wikipedia.org]

Review the clinical manifestations, the variability seen in fragile X syndrome, and the long-term prognosis. Review currently available treatments and interventions. [pediatrics.aappublications.org]

Early brain imaging results have the potential to provide a more accurate prognosis as well as lead to a better understanding of neurological symptoms and responses to therapies. [childrenshospital.org]

Genetic counselling aims to educate families about the syndrome, its implications and prognosis, supporting them in making informed decisions about the future and in dealing with the emotional impact of the diagnosis. [intellectualdisability.info]

Prognosis Prognosis depends on many factors and is difficult to predict, particularly in the young child. [medicalhomeportal.org]

While it is clear that genetics can play a role in the development of certain patients, approximately 90% of patients with ASD do not have a genetic etiology identified. [cincinnatichildrens.org]

Array comparative genomic hybridization (aCGH) and exome sequencing, together with systems genetics and network analyses, are being used as tools for the study of complex disorders of unknown etiology, especially those characterized by significant genetic [mdanderson.influuent.utsystem.edu]

[…] retardation, language delay, extreme macrocephaly (+4.7SD) with a prominent forehead, and digital minor anomalies.ConclusionChildren with macrocephaly, particularly males, are at a higher risk of neurodevelopmental disorders, rather than progressive etiologies [medicinebyalexandrosgsfakianakisblog.wordpress.com]

Abnormalities of dentition or the palate may suggest a genetic etiology. Heart Cardiac murmurs or defects may suggest a genetic syndrome. [medicalhomeportal.org]

Developmental delays vary depending on the level of MR/ID and the etiology. [misc.medscape.com]

Paediatric and Perinatal Epidemiology, 22 (2), 180–187. doi: 10.1111/j.1365-3016.2007.00897.x. CrossRef PubMed Leyfer, O. T., Folstein, S. E., Bacalman, S., Davis, N. O., Dinh, E., Morgan, J., et al. (2006). [mijn.bsl.nl]

Epidemiology [ edit ] Incidence is approximately 1 in 14,000 births. [11] See also [ edit ] Perlman syndrome Beckwith-Wiedemann syndrome References [ edit ] ^ http://www.exploringautism.org/autism/evaluation.htm ^ "7-foot-tall Broc Brown: Facts". [en.wikipedia.org]

Epidemiology of Autism Spectrum Disorders. The Pediatric Clinics of North America. 2012;59(1):27-43. [medicalhomeportal.org]

Mental Subnormality in the Community: A Clinical and Epidemiologic Study. Baltimore: Williams & Wilkins; 1970. Strauss D, Eyman RK. Mortality of people with mental retardation in California with and without Down syndrome, 1986-1991. [misc.medscape.com]

Epidemiology There are about 100–200 affected births in the UK each year. The population prevalence is estimated at 1 in 4000 males and 1 in 8000 females (Hagerman and Hagerman, 2002). It occurs in all races and ethnic groups. [intellectualdisability.info]

X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology [books.google.com]

This observation also suggests that generalized overgrowth might represent a “biomarker” associated with one or more homogeneous clinical and pathophysiological subtypes of ASD [33]. [journals.plos.org]

Decreased expression of axon-guidance proteins, as PLXNA4, was found in the brains of people with ASD, suggesting that dysfunctional axon-guidance protein expression may play an important role in the pathophysiology of autism [ 9 ]. [omicsonline.org]

References Pathophysiology MR/ID is the end result of many disorders of CNS function. Most individuals with significant intellectual impairment have no discernible structural abnormalities of the brain. [misc.medscape.com]

The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid. [rarediseases.org]

Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. [en.wikipedia.org]

Recommendations for preventive pediatric health care. Pediatrics. 2007 ; 120 ( 6 ): 1376 34. ↵ 35. ↵ Copyright © 2011 by the American Academy of Pediatrics View Abstract [pediatrics.aappublications.org]

CrossRef PubMed Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators, Centers for Disease Control and Prevention (CDC). (2014). [mijn.bsl.nl]

Because we cannot predict which cancers may develop, additional medical management strategies focused on cancer prevention and early detection may benefit most patients who are found to have a pathogenic variant. [invitae.com]