Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, microcephaly, mental retardation, and a distinct hysmorphic pattern. Both exhibited a ridged metopic suture, hypertelorism, a short nose with a broad base, hypoplasia of the distal phalanges and nails of the toes, and inguinal hernias. In addition the 18-month-old girl exhibited epicanthal folds, strabismus, ptosis, and a small ventricular septal defect; she had been exposed in utero to 300 mg mesantoin daily. Her 6 1/2-year-old brother was more severely retarded, lacking speech and presenting with infantile autism. During pregnancy the mother had taken 400 mg mesantoin daily. About half of the offspring of epileptic women treated with hydantoin during pregnancy are mentally retarded, and 11% exhibit in addition the pattern of dysmorphic findings known as the fetal hydantoin syndrome. Hydantoin should therefore be strictly avoided in epileptic women of child-bearing age unless safe contraceptive measures are taken. In the event of pregnancy, therapeutic abortion should be considered if hydantoin therapy must be maintained.
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PMID:[Fetal hydantoin syndrome in siblings]. 10 83

Maternal antibodies reactive with antigenic proteins expressed on the cell surface of paternal lymphocytes can be detected in couples with histories of more than one miscarriage or stillbirth. It is possible, but not proven, that these antibodies also react with tissues of the fetus and result in fetal death. Since many mothers of autistic children have a history of pregnancy disorder, antibodies were studied in 11 mothers of autistic children who were 6 years of age or younger. Six of the mothers had antibodies that reacted with lymphocytes of the autistic child. Five of these six mothers had a history of pregnancy disorder. Since antigens expressed on lymphocytes are found on cells of the central nervous system and, perhaps, other tissues of the developing embryo, it is suggested that aberrant maternal immunity may be associated with the development of some cases of infantile autism.
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PMID:Detection of maternal antibodies in infantile autism. 227 13

Fragile X syndrome is the most common inherited form of mental disability, world-wide. Main clinical features are cognitive deficit, speech difficulties, delayed development, autism, and particular physical characteristics. The syndrome can be cytogenetically diagnosed by the expression of chromosome X fragile site at band Xq27.3. At molecular level, the cause of the syndrome is defined as an abnormal expansion of CGG trinucleotide repeats in the 5'UTR of the FMR-1 gene as well as hypermethylation at the proximal CpG island. Study of fragile X syndrome at Songklanagarind Hospital during May 1991-June 1996 was herein reported. A total of 287 blood samples of 260 unrelated families were cytogenetically examined by using lymphocyte culture method with 2-4 different treatments. Frequency of positive fragile X cases was found to be 7 in 260 (2.7%). Among relatives of the positive ones, 13 individuals were also positive. Other types of chromosome abnormalities were detected in 13 cases (5%). For molecular study, DNA samples were obtained from 97 cases. Investigation of CGG repeat expansion was performed by PCR method. Abnormal expansion was identified as full mutation (> 200 repeats) and premutation (> 50-200 repeats). The abnormalities were found in 14 individuals of 5 unrelated cases; 6 with full mutation and 8 with premutation. No molecular study on the two cytogenetic positive cases has been performed. In conclusion, a total of 50 individuals with fragile X abnormality has been documented: 18 affected cases and 32 carriers. Investigation of the remaining suspected members in positive families is in progress. The information and experience will lead to prevention of this genetic disease by prenatal diagnosis and elective abortion in Thailand.
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PMID:The frequency of fragile X syndrome among selected patients at Songklanagarind Hospital during 1991-1996, studied by cytogenetic and molecular methods. 964 Jun 3

An increasing number of women with cerebrospinal fluid shunts are surviving to child-bearing age, and are making independent decisions in regard to planning their families. As a result, a broad range of interdisciplinary health care professionals will require information about the management of these patients, especially during pregnancy and delivery. The purpose of this ongoing study is to gather comprehensive data from shunted women regarding their clinical history during pregnancy and within the six-month post-partum period. As part of this study, the following questions were addressed: 1. How does maternal shunt dependency influence the course of pregnancy and pregnancy outcomes? 2. What neurosurgical complications characterize this population of patients? 3. What complications of shunt dependency influence obstetrical management including pre-natal testing and delivery? 4. What are the implications of shunt dependency with respect to general reproductive health concerns within this population? A total of 70 respondents, 18-41 years old and accounting for 138 pregnancies, completed a questionnaire providing information on maternal background, medical history, shunt performance during pregnancy, management of delivery, pregnancy outcomes, and unusual complications. One hundred three (103) pregnancies resulted in 105 live births including two surviving sets of twins; of these, 84 occurred in women with ventriculoperitoneal shunts (including both mothers who gave birth to live twins). Four women underwent therapeutic abortions, five delivered pre-term, one mother delivered a stillborn infant, and 16 experienced 32 miscarriages (including two ectopic pregnancies, and 33 fetal losses). Three women had seizures during pregnancy. Nine mothers reported an increase in headache activity during pregnancy. Twelve described abdominal pains during the course of pregnancy with anecdotal reports of increased frequency of painful episodes during the first and third trimesters. Twelve babies were diagnosed with congenital defects, including one pair of fraternal twins individually diagnosed with symmetric parietal foramina. Seven additional children were diagnosed with developmental disabilities including attention deficit disorder (ADD), attention deficit hyperactivity disorder (ADHD), pervasive developmental delay (PDD), and autism. Shunt malfunctions and revisions occurred seven times (four women) during pregnancy, and in 24 pregnancies (13 women) within six months of delivery. One malfunction and revision followed the miscarriage of twins at 12 gestational weeks. No acute malfunctions requiring immediate revision occurred during delivery, although two women reported severe headaches during labor. Transient signs of raised intracranial pressure occurred in 15 mothers over the course of 19 pregnancies which did not require surgical revision of the shunt following delivery or termination of pregnancy. No signs of shunt malfunction were identified in 100 of the pregnancies described in this series; 31 of these resulting in miscarriage and 69 resulting in live births. This study extends observations made previously to a larger population of shunt dependent mothers, and nearly doubles the amount of data available in our last publication. The results suggest that maternal shunt dependency carries a relatively high incidence of complications for some patients, but that proper management of these patients can lead to normal pregnancy and delivery.
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PMID:Hydrocephalus and the reproductive health of women: the medical implications of maternal shunt dependency in 70 women and 138 pregnancies. 1067 83

Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Mobius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.
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PMID:Mobius sequence--a Swedish multidiscipline study. 1199 54

The androgen receptor gene (AR) contains a domain which includes a variable number of CAG sequences and alleles with low numbers of CAG repeats show high transactivation activity when complexed with testosterone. The ratio of 2nd and 4th digit length (2D:4D) is negatively correlated with phenotypic effects of testosterone. Low numbers of CAG repeats and low 2D:4D are both associated with high sperm numbers and protection against breast cancer. This suggests that CAG number and 2D:4D are correlated i.e. low CAG number and low 2D:4D indicate high activation of androgen-responsive genes. Findings from AR studies predict that low 2D:4D will be associated with prostate and hepatocellular cancer, urolithiasis, ADHD, ankylosing spondylitis, spontaneous abortion, and polycystic ovaries, while high 2D:4D will be associated with motor neuron diseases and endometrial cancer. Findings from 2D:4D studies predict that short CAG length will be common in autism and Asperger's syndrome, while high numbers of CAG repeats will be found in men who are prone to early myocardial infarction.
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PMID:The ratio of 2nd to 4th digit length: a proxy for transactivation activity of the androgen receptor gene? 1220 64

The Court in this decision authorized an abortion to be performed on a women who was seventeen weeks' pregnant. The woman was unable to express her will with respect to the abortion because she was suffering from chronic schizophrenia and autism. The Court made its ruling under Article 13 of Law No. 184 of 22 May 1978, which allows a Court to authorize an abortion in such circumstances and requires a court to base its decision on the findings of a physician's report. Here, the physician's report stated that the woman's precarious mental equilibrium could be threatened if the pregnancy were continued.
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PMID:Judgment, 20 March 1986. 1234 13

Miscarriage is a condition that affects 10%-15% of all clinically recognized pregnancies, most of which occur in the first trimester. Approximately 50% of first-trimester miscarriages result from fetal chromosome abnormalities. Currently, G-banded chromosome analysis is used to determine if large-scale genetic imbalances are the cause of these pregnancy losses. This technique relies on the culture of cells derived from the fetus, a technique that has many limitations, including a high rate of culture failure, maternal overgrowth of fetal cells, and poor chromosome morphology. Comparative genomic hybridization (CGH)-array analysis is a powerful new molecular cytogenetic technique that allows genomewide analysis of DNA copy number. By hybridizing patient DNA and normal reference DNA to arrays of genomic clones, unbalanced gains or losses of genetic material across the genome can be detected. In this study, 41 product-of-conception (POC) samples, which were previously analyzed by G-banding, were tested using CGH arrays to determine not only if the array could identify all reported abnormalities, but also whether any previously undetected genomic imbalances would be discovered. The array methodology detected all abnormalities as reported by G-banding analysis and revealed new abnormalities in 4/41 (9.8%) cases. Of those, one trisomy 21 POC was also mosaic for trisomy 20, one had a duplication of the 10q telomere region, one had an interstitial deletion of chromosome 9p, and the fourth had an interstitial duplication of the Prader-Willi/Angelman syndrome region on chromosome 15q, which, if maternally inherited, has been implicated in autism. This retrospective study demonstrates that the DNA-based CGH-array technology overcomes many of the limitations of routine cytogenetic analysis of POC samples while enhancing the detection of fetal chromosome aberrations.
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PMID:Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. 1512 62

We have previously described linkage/association between reelin gene polymorphisms and autistic disorder. APOE also participates in the Reelin signaling pathway, by competitively antagonizing Reelin binding to APOE receptor 2 and to very-low-density lipoprotein receptors. The APOE2 protein variant displays the lowest receptor binding affinity compared with APOE3 and APOE4. In this study, we assess linkage/association between primary autism and APOE alleles in 223 complete trios, from 119 simplex Italian families and 44 simplex and 29 multiplex Caucasian-American families. Statistically significant disequilibrium favors the transmission of epsilon2 alleles to autistic offspring, over epsilon3 and epsilon4 (allele-wise transmission/disequilibrium test [TDT], chi2 = 6.16, 2 degrees of freedom [d.f.], P<0.05; genotype-wise TDT, chi2 = 10.68, 3 d.f., P<0.05). A novel epsilon3r allele was also discovered in an autistic child and his mother. Autistic patients do not differ significantly from unaffected siblings (allele-wise TDT comparing autistic patients versus unaffected sibs, chi2 = 1.83, 2 d.f., P<0.40, not significant). The major limitation of this study consists of our small sample size of trios including one unaffected sibling, currently not possessing the statistical power necessary to conclusively discriminate a specific association of epsilon2 with autism, from a distorted segregation pattern characterized by enhanced epsilon2 transmission rates both to affected and unaffected offspring. Our findings are thus compatible with either (a) pathogenetic contributions by epsilon2 alleles to autism spectrum vulnerability, requiring additional environmental and/or genetic factors to yield an autistic syndrome, and/or (b) a protective effect of epsilon2 alleles against the enhanced risk of miscarriage and infertility previously described among parents of autistic children.
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PMID:Enhanced APOE2 transmission rates in families with autistic probands. 1516 92

An episode of hyperthermia is not uncommon during pregnancy. The consequences depend on the extent of temperature elevation, its duration, and the stage of development when it occurs. Mild exposures during the preimplantation period and more severe exposures during embryonic and fetal development often result in prenatal death and abortion. Hyperthermia also causes a wide range of structural and functional defects. The central nervous system (CNS) is most at risk probably because it cannot compensate for the loss of prospective neurons by additional divisions by the surviving neuroblasts and it remains at risk at stages throughout pre- and postnatal life. In experimental animals the most common defects are of the neural tube, microphthalmia, cataract, and micrencephaly, with associated functional and behavioral problems. Defects of craniofacial development including clefts, the axial and appendicular skeleton, the body wall, teeth, and heart are also commonly found. Nearly all these defects have been found in human epidemiological studies following maternal fever or hyperthermia during pregnancy. Suggested future human studies include problems of CNS function after exposure to influenza and fever, including mental retardation, schizophrenia, autism, and cerebral palsy.
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PMID:Review: Hyperthermia and fever during pregnancy. 1693 4


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