Particular clinical presentations of neurometabolic disorders include ataxias, movement disorders, childhood epilepsies, or peripheral neuropathy. [oxfordmedicine.com]

Furthermore, a prominent nasal bridge is present in the neonate and may aid diagnosis at this stage. [journals.lww.com]

Although most leukodystrophies produce symmetric pyramidal tract signs, in particular spasticity, the clinical presentation may be variable, especially in adults. [neurology.org]

[…] development, behavioral function, and retinal function are closely followed in SLOS patients on this protocol.Additionally, there are two areas of research focus for this protocol:1) It is now known that patients at the very mild end of the SLOS spectrum may present [grantome.com]

Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes. Gene. 2013 Mar 14. [Medline]. Brislin RP, Stayer SA, Schwartz RE. [emedicine.medscape.com]

• Disability

  This condition is PPM-X syndrome PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder Alpha thalassemia X-linked intellectual disability syndrome Alpha thalassemia X-linked intellectual disability syndrome [ghr.nlm.nih.gov]

  Causes and risk factors for intellectual disabilities Anytime something occurs that interferes with a person’s normal brain development there is the risk for the development of intellectual disability. [millcreekofmagee.com]

  disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, [se-atlas.de]

  […] on a tricycle with management for mom, in a blue cap and jacket in the Park for a walk child autistic with disabilities on a tricycle with management for mom, in a blue cap and jacket in the Park for a walk child autistic with disabilities on a tricycle [shutterstock.com]

  View/Print Table TABLE 1 Definitions of Developmental Disabilities and Mental Retardation Developmental disabilities Severe chronic mental or physical disabilities that manifest before a person reaches 22 years of age, are likely to continue indefinitely [aafp.org]

• Weakness

  Normal development for first six months, followed by acquired microcephaly, loss of hand skills and replacement by stereotypies, regression of skills, seizures, spasticity, scoliosis Spinal muscular atrophy 1, 2, 3 AR Loss of anterior horn cells; limb weakness [neupsykey.com]

  […] nail-patella syndrome (onychoosteodysplasia) Navajo neurohepatopathy Naxos disease nephropathy with pretibial epidermolysis bullosa & deafness Netherton syndrome Netherton syndrome; trichorrhexis invaginata; bamboo hair Neu-Laxova syndrome neurogenic muscle weakness [anvita.info]

• Atrial Septal Defect

  septal defects Orthopedic: scoliosis Pulmonary: recurrent upper respiratory infection with otitis media Down syndrome Cardiac: adults without apparent congenital heart disease may have valvular disease including mitral valve prolapse and aortic regurgitation [aafp.org]

• Aggressive Behavior

  X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive [se-atlas.de]

  PubMed PubMed Central Google Scholar Zwarts L, Magwire MM, Carbone MA, Versteven M, Herteleer L, Anholt RR, Callaerts P, Mackay TF: Complex genetic architecture of Drosophila aggressive behavior. [genomebiology.biomedcentral.com]

• Large Fontanel

  Symptoms and clinical features of the condition may include: 1 Clinical Features of Cree Mental Retardation Syndrome : Autosomal recessive inheritance Cryptorchidism Hypospadias Bifid scrotum Cleft soft palate Large fontanelles Brachycephaly Hypertelorism [familydiagnosis.com]

• Tremor

  […] syndrome Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Focal, segmental or multifocal dystonia Folinic acid-responsive seizures Fountain syndrome Fowler syndrome Fragile X syndrome Fragile X-associated tremor [se-atlas.de]

  Seizures and tremors are common, as are eczema and psychotic manifestations. The clinical symptoms can be prevented by use of a low-phenylalanine diet soon after birth. In most developed countries, all newborns are screened for PKU. [emedicine.medscape.com]

  Cell 1:109-118(1997)., PubMeb:9659908 DOI:10.1016/S1097-2765(00)80012-X "Intention tremor, parkinsonism, and generalized brain atrophy in malecarriers of fragile X. [genscript.com]

  She drank in the final months of her pregnancy and when she gave birth at the hospital her baby suffered tremors from alcohol withdrawal. Ms. [come-over.to]

• Global Developmental Delay

  developmental delay Rocker bottom foot Aplasia / Hypoplasia of the ribs Cutaneous finger syndactyly • • • References Source: Human Phenotype Ontology • • • Note: This site is for informational purposes only and is not medical advice. [familydiagnosis.com]

  delay with autism spectrum disorder and gait instability Developmental delay-deafness syndrome, Hildebrand type Developmental malformations-deafness-dystonia syndrome Diencephalic-mesencephalic junction dysplasia Diffuse cerebral and cerebellar atrophy-intractable [se-atlas.de]

• Atelectasis

  Surface Properties in Relation to Atelectasis and Hyaline Membrane Disease. ‎ Página 485 - In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The Metabolic Basis of Inherited Disease. 6th ed. New York: McGraw-Hill; 1989. ‎ [books.google.es]

This protocol is the only site studying the effects of cholesterol treatment on retinal function in human patients with SLOS. [grantome.com]

Overview A diagnosis of intellectual disability (ID) carries with it certain unique treatment needs that must be understood and addressed. [emedicine.medscape.com]

Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. [oxfordmedicine.com]

Learning through fun and play FERGUS FALLS, MINNESOTA - JULY 04, 2015: Fergus Falls Regional Treatment Center is in National Register of Historic places. Closed 2005. [shutterstock.com]

We reviewed the literature and discussed the pathophysiology, differential diagnosis and treatment of this disorder. [content.iospress.com]

"What we know is that early diagnosis may mean a better prognosis, because it means we can put some interventions in place early on," says Julianne Conry, a psychologist at the University of British Columbia who assesses children for FAS. [come-over.to]

When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition. [emedicine.medscape.com]

The underlying molecular etiology remains unknown; therefore, prenatal diagnosis of recurrences depends on identification of the associated structural anomalies on second trimester ultrasound examination. [karger.com]

Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard. 2005;110(4):253-267. 54. Battaglia A, Bianchini E, Carey JC. [netce.com]

PubMed Google Scholar Betancur C: Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011, 1380: 42-77. [genomebiology.biomedcentral.com]

Although some etiologies of mental retardation may have associated behavioral phenotypes ( Table 4 ), 10 – 18 most challenging behaviors are caused by the same neuropsychiatric disorders that affect the general population 54 and respond to the same treatments [aafp.org]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978 Nov 16. 44(3):227-75. [Medline]. Robinson WP, Dutly F, Nicholls RD, et al. The mechanisms involved in formation of deletions and duplications of 15q11-q13. [emedicine.medscape.com]

Epidemiologic features of the physical and sexual maltreatment of children in the Carolinas. Pediatrics. 2005;115(3):e331-337. 61. Bonnier C1, Nassogne MC, Saint-Martin C, Mesples B, Kadhim H, Sébire G. [netce.com]

Psychiatric disorders in Prader-Willi syndrome: epidemiology and management. CNS Drugs. 2003;17:167–78. 13. Dykens EM. Intervention issues in persons with Williams syndrome. Ment Health Aspects Dev Disabil. 2001;4:130–7. 14. [aafp.org]

We reviewed the literature and discussed the pathophysiology, differential diagnosis and treatment of this disorder. [content.iospress.com]

In recent years, the application of genetic molecular methods introduced advances in the diagnosis and typification of the cri-du-chat syndrome. [2] Pathophysiology See the list below: A partial deletion of the short arm of chromosome 5 is responsible [emedicine.medscape.com]

Certain pathophysiological states could arise due to mutation in any of a large number of different genes. [genomebiology.biomedcentral.com]

Many of the incidents are preventable, especially if parents and care-givers are aware of hidden hazards in the home and other child-care settings. The U.S. [health.gov]

Preventing abusive head trauma among infants and young children: a hospital-based, parent education program. Pediatrics. 2005;115(4):e470-e477. 39. Levin AV, Cordovez JA, Leiby BE, Pequignot E, Tandon A. [netce.com]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]

Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. [emedicine.medscape.com]

But we can prevent some of the frustration and acting-out behaviour that makes people with FAS more susceptible to problems later on." [come-over.to]