scholarly journals Autism and mental retardation: the genetic relationship and contribution

2001 ◽  
Vol 7 (3) ◽  
pp. 536-543
Author(s):  
M. A. El Hazmi
Keyword(s):  
Mental Retardation ◽  
Candidate Genes ◽  
Genetic Relationship ◽  
Genetic Disorders ◽  
Neurodevelopmental Disorder ◽  
Signs And Symptoms ◽  
Genetic Etiology ◽  
Etiological Factors

Autism, a neurodevelopmental disorder first described in 1943, is reviewed. The signs and symptoms of the disorder are described together with the etiological factors. The evidence for a genetic etiology of autism and its association with other genetic disorders are discussed. Possible candidate genes for autism are described.

Infantile Spasms Due to Unilateral Cerebral Infarcts

PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 1024-1026
Author(s):  
LUIS A. ALVAREZ ◽  
SHLOMO SHINNAR ◽  
SOLOMON L. MOSHÉ
Keyword(s):  
Mental Retardation ◽  
Genetic Disorders ◽  
Infantile Spasms ◽  
Seizure Disorder ◽  
Neurologic Examination ◽  
Cerebral Infarcts ◽  
Symptomatic Group ◽  
High Incidence ◽  
Underlying Disorder ◽  
Group 1

Infantile spasms are an age-specific seizure disorder that occur in infants with no known underlying disorder or prior neurologic insult (cryptogenic group) as well as in infants with a variety of genetic disorders or known prior neurologic insult (symptomatic group).1-8 The presence of infantile spasms is associated with a high incidence of developmental retardation (87%)3 even in previously normal infants.3,5-7 Although there are many contradictory studies, it is generally believed that the infants in the symptomatic group, especially those with abnormal findings on neurologic examination prior to the onset of the seizures, have a significantly higher incidence of mental retardation and epilepsy than the infants in the cryptogenic group.1-9

scholarly journals Diagnostic path of a genetic disease: a case of Williams-Beuren syndrome in Burkina Faso

2015 ◽  
Vol 7 (4) ◽  
Author(s):  
Makoura Barro ◽  
Bintou Sanogo ◽  
Aimée S. Kissou ◽  
Ad Bafa Ibrahim Ouattara ◽  
Boubacar Nacro
Keyword(s):  
Mental Retardation ◽  
Burkina Faso ◽  
Clinical Diagnosis ◽  
Clinical Examination ◽  
Health Professionals ◽  
Genetic Disease ◽  
Neurodevelopmental Disorder ◽  
Dysmorphic Feature ◽  
Chromosome Band ◽  
Behavioral Abnormalities

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals.

Oligophrenia associated with various pathogenesis

2020 ◽  
Vol 56 (07) ◽  
pp. 73-76
Author(s):  
Afat Afar Israfilova ◽  
Keyword(s):  
Mental Retardation ◽  
Key Words ◽  
Metabolic Disorders ◽  
Genetic Disorders ◽  
Physical Illness ◽  
The Body ◽  
Negative Effect

The causes of pathology are different. There are various inherited genetic disorders of the body, which are metabolic disorders, chromosome deficiency leads to various pathologies. Other factors have a negative effect on embryonic pathogenesis in the intrauterine stage. As a result, the baby does not develop properly in the womb. Key words: Pathology, physical illness, infection, mental retardation

Diagnosis and dimensional pharmacotherapy of challenging behaviour in mental retardation

1999 ◽  
Vol 11 (1) ◽  
pp. 28-30
Author(s):  
W.M.A. Verhoeven ◽  
S. Tuinier
Keyword(s):  
Mental Retardation ◽  
Mood Disorder ◽  
Psychiatric Disorders ◽  
Adverse Drug Events ◽  
Diagnostic Process ◽  
Atypical Presentation ◽  
Challenging Behaviour ◽  
Genetic Etiology ◽  
Cycloid Psychosis ◽  
Behavioural Phenotypes

SUMMARYClassical psychiatric taxonomy appears to be increasingly inadequate in the diagnostic process of mentally retarded subjects. The reasons for this are the atypical presentation of classical psychiatric disorders, special diagnostic entities like cycloid psychosis and unstable mood disorder and the existence of so-called behavioural phenotypes related to syndromes with a known genetic etiology. In addition, disturbed behaviour may be the result of somatic or neurologic comorbidity and induced to adverse drug events.

scholarly journals Anterior knee schwannoma

2019 ◽  
Vol 2019 (9) ◽  
Author(s):  
Charmaine Ilagan ◽  
Lauren Poliakin ◽  
Armand Asarian ◽  
Philip Xiao ◽  
Sandeep Sirsi
Keyword(s):  
Genetic Disorders ◽  
Signs And Symptoms ◽  
Mass Effect ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Surgical Biopsy ◽  
Asymptomatic Patients ◽  
Direct Nerve ◽  
Anterior Knee

Abstract Peripheral nerve tumors are relatively uncommon with schwannomas being the most common type. Schwannomas are usually benign encapsulated tumors composed of neoplastic Schwann cells that generally do not transform to malignancy. Many are discovered incidentally as solitary tumors. The cause is unknown. Most occur spontaneously, while some develop in association with genetic disorders such as neurofibromatosis type 2 or schwannomatosis. Schwannomas can occur anywhere in the body. They affect all ages, with peaking incidence between ages 20 and 50 years, without predilection to sex or race. Many are asymptomatic; however, presenting signs and symptoms, such as paresthesia and pain, are due to mass effect and direct nerve invasion. Diagnosing includes combinations of thorough physical examination, imaging modalities such as magnetic resonance imaging and surgical biopsy. Treatment depends on factors such as location of the tumor and severity of symptoms. Asymptomatic patients are treated conservatively while symptomatic patients undergo surgical resection with favorable prognosis.

A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2

2003 ◽  
Vol 104 (s49) ◽  
pp. 39P-40P
Author(s):  
Simon Holden ◽  
Andreas Schroer ◽  
Sabine Kuebart ◽  
Ilke Slosarek ◽  
Catherine Bovie ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Candidate Genes ◽  
Mapping Strategy ◽  
Chromosome Breakpoint ◽  
Breakpoint Mapping

scholarly journals Random or Stochastic Monoallelic Expressed Genes Are Enriched for Neurodevelopmental Disorder Candidate Genes

PLoS ONE ◽  
2013 ◽  
Vol 8 (12) ◽  
pp. e85093 ◽  
Author(s):  
Aaron R. Jeffries ◽  
David A. Collier ◽  
Evangelos Vassos ◽  
Sarah Curran ◽  
Caroline M. Ogilvie ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Neurodevelopmental Disorder
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