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]

• Developmental Disorder

  […] of developmental disorders. [health.gov]

  (DSM-5), characterizes intellectual disability (intellectual developmental disorder) by deficits in general mental abilities, such as reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. [emedicine.medscape.com]

  […] and speech delay due to SOX5 deficiency Developmental delay with autism spectrum disorder and gait instability Developmental delay-deafness syndrome, Hildebrand type Developmental malformations-deafness-dystonia syndrome Diencephalic-mesencephalic junction [se-atlas.de]

  – 76 ], autism [ 73, 77 – 80 ], attention deficit-hyperactivity disorder [ 81 – 84 ], Tourette syndrome [ 85 ], developmental delay and mental retardation [ 14 ], and epilepsy [ 86 ]. [genomebiology.biomedcentral.com]

• 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]

• Eczema

  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]

  […] 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 Dermatologic: seborrheic dermatitis of scalp and face, eczema [aafp.org]

• Visual Impairment

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

  impairment-urinary anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase [se-atlas.de]

• 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]

• No Speech Development

  Their developmental milestones, especially speech development, are delayed. After puberty, the characteristic phenotypical features may appear. They include an oblong face, prominent ears and jaw, and macroorchidism. [emedicine.medscape.com]

• Phenylketonuria

  This success has led to new challenges in the management of the adult with phenylketonuria and unexpected and devastating effect of the disorder on the unborn child of an untreated Phenylketonuria mother. [oxfordmedicine.com]

  Nijmegen breakage syndrome Oculocutaneous albinism, Type 1 Oculocutaneous albinism, Type 4 Odonto-onycho-dermal dysplasia/Schopf-Schulz-Passarge syndrome Osteopetrosis, Autosomal Recessive 1 Pendred syndrome Peroxisome Biogenesis Disorder 5A (Zellweger) Phenylketonuria [genpathdiagnostics.com]

  Phenylketonuria (PKU) and the hyperphenylalaninemias: III psychiatric and behavioral aspects. Ment Health Aspects Dev Disabil. 1999;2:133–40. 19. Woodruff BA, Vazquez E. [aafp.org]

  Phenylketonuria (PKU) is the best known and most common of the metabolic disorders, with a prevalence of approximately 1 in 10,000 live births. [emedicine.medscape.com]

  […] syndrome Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Classic homocystinuria Classic lissencephaly Classic multiminicore myopathy Classic pantothenate kinase-associated neurodegeneration Classic paraneoplastic limbic encephalitis Classic phenylketonuria [se-atlas.de]

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]