PubMed Health⌕ Search

Biomedical subjects

G Annerén

Publications and source records attributed to G Annerén.

At least 19 recordsLinked to original sources
PubMed2002

Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy.

We describe a 2-year-old boy with chondrodysplasia punctata (CDP). The boy was exposed to phenytoin, in combination with carbamazepine, during pregnancy. There has been previous evidence for a connection between phenytoin exposure during pregnancy and chondrodysplasia punctata. The boy had clinical and some radiological characteristic features of CDP, of the tibia-metacarpal type. We know of no other report on a child exposed to phenytoin during pregnancy who developed CDP of this type.

Anticonvulsants↗
PubMed2002

Utilization of medical care among children with Down's syndrome.

BACKGROUND: The present authors have previously found an increased mortality rate in children with Down's syndrome (DS) and a congenital heart defect (CHD). The aim of the present study was to investigate the utilization of medical care in relation to congenital malformations in DS. METHOD: Retrospectively, 211 children with DS born between 1973 and 1980 in the northern part of Sweden were followed up for at least 17 years (1973-1997). The duration of neonatal care was compared with that of children with DS born between 1995 and 1998 in the same region. RESULTS: Neonatal care was reduced over time. Almost 50% of the children had CHD, and before 10 years of age, these subjects were admitted for inpatient care twice as often as children with DS who did not have malformations, and had more than 12 times as many inpatient days per month. The existence of a gastrointestinal or other malformation increased inpatient days per month four and two times, respectively, compared to healthy children with DS. During the first 10 years of life, children with DS and a CHD accounted for 71% of all inpatient days caused by infections. No gender differences were observed. CONCLUSIONS: At a group level, the presence of a CHD was the most important congenital abnormality in determining utilization of medical care and the burden of infections in the population of children with DS.

Age Factors↗
PubMed2002

Swedish parents of children with Down's syndrome.

Becoming parents of a child with Down's syndrome (DS) challenges the adjustment ability in parenthood. Individuals with higher sense of coherence (SOC) are supposed to manage stressors better than those with lower SOC. The aims of this study were to investigate parental self-perceived stress, SOC, frequency of gainful employment and amount of time spent on child care in Swedish DS parents (165 parents; 86 mothers, 79 fathers) and to compare those with control parents of healthy children (169 parents; 87 mothers, 82 fathers). The mean age of the children was 4.7 years. Parents responded to questionnaires separately including Hymovich's Parent Perception Inventory as stress measurement and Antonovsky's short version of the Orientation to Life. No differences concerning total employment rate were observed, but the DS mothers were more often employed part-time than control mothers. The DS parents did not spend more time on child care than the control parents and they did not differ in mean SOC score, but the DS parents perceived greater stress. The differences in stress, particularly between the DS and control mothers, were related to time-demanding areas. Parents with high SOC scores experienced significantly less self-perceived stress.

Adaptation, Psychological↗
PubMed2002

Growth charts for Down's syndrome from birth to 18 years of age.

BACKGROUND: Growth in children with Down's syndrome (DS) differs markedly from that of normal children. The use of DS specific growth charts is important for diagnosis of associated diseases, such as coeliac disease and hypothyroidism, which may further impair growth. AIMS: To present Swedish DS specific growth charts. METHODS: The growth charts are based on a combination of longitudinal and cross sectional data from 4832 examinations of 354 individuals with DS (203 males, 151 females), born in 1970-97. RESULTS: Mean birth length was 48 cm in both sexes. Final height, 161.5 cm for males and 147.5 cm for females, was reached at relatively young ages, 16 and 15 years, respectively. Mean birth weight was 3.0 kg for boys and 2.9 kg for girls. A body mass index (BMI) >25 kg/m(2) at 18 years of age was observed in 31% of the males and 36% of the females. Head growth was impaired, resulting in a SDS for head circumference of -0.5 (Swedish standard) at birth decreasing to -2.0 at 4 years of age. CONCLUSION: Despite growth retardation the difference in height between the sexes is the same as that found in healthy individuals. Even though puberty appears somewhat early, the charts show that DS individuals have a decreased pubertal growth rate. Our growth charts show that European boys with DS are taller than corresponding American boys, whereas European girls with DS, although being lighter, have similar height to corresponding American girls.

Adolescent↗
PubMed2001

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.

Autism is a neuropsychiatric disorder characterized by impairments in social interaction, restricted and stereotypic pattern of interest with onset by 3 years of age. The results of genetic linkage studied for autistic disorder (AD) have suggested a susceptibility locus for the disease on the long arm of chromosome 7. We report a girl with AD and a balanced reciprocal translocation t(5;7)(q14;q32). The mother carries the translocation but do not express the disease. Fluorescent in situ hybridization (FISH) analysis with chromosome 7-specific YAC clones showed that the breakpoint coincides with the candidate region for AD. We identified a PAC clone that spans the translocation breakpoint and the breakpoint was mapped to a 2 kb region. Mutation screening of the genes SSBP and T2R3 located just centromeric to the breakpoint was performed in a set of 29 unrelated autistic sibling pairs who shared at least one chromosome 7 haplotype. We found no sequence variations, which predict amino acid alterations. Two single nucleotide polymorphisms were identified in the T2R3 gene, and associations between allele variants and AD in our population were not found. The methylation pattern of different chromosome 7 regions in the patient's genomic DNA appears normal. Here we report the clinical presentation of the patient with AD and the characterization of the genomic organization across the breakpoint at 7q32. The precise localization of the breakpoint on 7q32 may be relevant for further linkage studies and molecular analysis of AD in this region.

Autistic Disorder↗
PubMed2001

Caffeine metabolism and the risk of spontaneous abortion of normal karyotype fetuses.

OBJECTIVE: To investigate whether the rate of caffeine metabolism influences spontaneous abortion risk. METHODS: We studied 101 women with normal karyotype spontaneous abortions and 953 pregnant women at 6-12 gestational weeks. Participants reported on caffeine intake and provided urine for phenotyping cytochrome P4501A2 (CYP1A2) activity and blood for genotyping N-acetylation (NAT2) status. We calculated odds ratios (OR) and 95% confidence intervals (CI) to evaluate the association between each of the two metabolic indices and spontaneous abortion risk and also the potential interaction between caffeine intake and metabolic activity on such risk. In calculating the associations between the metabolic indices and risk of spontaneous abortion, we had 80% power to detect an OR of 2.1, with a Type I error of 0.05. RESULTS: Slow acetylators had a nonsignificantly increased risk for spontaneous abortion (OR 1.36, 95% CI 0.84, 2.21) and recurrent spontaneous abortion (OR 2.51, 95% CI 0.81, 7.76). In contrast, low CYP1A2 activity was associated with a significantly decreased risk for spontaneous abortion (OR 0.35, 95% CI 0.20, 0.63). Caffeine was a risk factor for spontaneous abortion among women with high, but not low, CYP1A2 activity (OR 2.42, 95% CI 1.01, 5.80 for 100-299 mg/day; OR 3.17, 95% CI 1.22, 8.22 for 300 mg/day or more, among women with high CYP1A2 activity). CONCLUSION: The findings indicate that high CYP1A2 activity may increase the risk of spontaneous abortion, independently or by modifying the effect of caffeine. The results regarding NAT2 are less conclusive but suggest that slow acetylators may be at elevated risk of spontaneous abortion.

Abortion, Spontaneous↗
PubMed2000

Caffeine intake and the risk of first-trimester spontaneous abortion.

BACKGROUND: Some epidemiologic studies have suggested that the ingestion of caffeine increases the risk of spontaneous abortion, but the results have been inconsistent. METHODS: We performed a population-based, case-control study of early spontaneous abortion in Uppsala County, Sweden. The subjects were 562 women who had spontaneous abortion at 6 to 12 completed weeks of gestation (the case patients) and 953 women who did not have spontaneous abortion and were matched to the case patients according to the week of gestation (controls). Information on the ingestion of caffeine was obtained from in-person interviews. Plasma cotinine was measured as an indicator of cigarette smoking, and fetal karyotypes were determined from tissue samples. Multivariate analysis was used to estimate the relative risks associated with caffeine ingestion after adjustment for smoking and symptoms of pregnancy such as nausea, vomiting, and tiredness. RESULTS: Among nonsmokers, more spontaneous abortions occurred in women who ingested at least 100 mg of caffeine per day than in women who ingested less than 100 mg per day, with the increase in risk related to the amount ingested (100 to 299 mg per day: odds ratio, 1.3; 95 percent confidence interval, 0.9 to 1.8; 300 to 499 mg per day: odds ratio, 1.4; 95 percent confidence interval, 0.9 to 2.0; and 500 mg or more per day: odds ratio, 2.2; 95 percent confidence interval, 1.3 to 3.8). Among smokers, caffeine ingestion was not associated with an excess risk of spontaneous abortion. When the analyses were stratified according to the results of karyotyping, the ingestion of moderate or high levels of caffeine was found to be associated with an excess risk of spontaneous abortion when the fetus had a normal or unknown karyotype but not when the fetal karyotype was abnormal. CONCLUSIONS: The ingestion of caffeine may increase the risk of an early spontaneous abortion among non-smoking women carrying fetuses with normal karyotypes.

Abortion, Spontaneous↗
PubMed2000

Growth hormone therapy in young children with Down syndrome and a clinical comparison of Down and Prader-Willi syndromes.

The genetic disorders Prader-Willi syndrome and Down syndrome have a number of features in common, for example, both growth and mental retardation. Growth hormone (GH) treatment is becoming part of the clinical management of children with Prader-Willi syndrome, but in children with Down syndrome, such therapy is still on a research level. In this review, we compare the clinical phenotypes of the two syndromes, and report the effects of long-term GH treatment on the linear growth and psychomotor development of 15 young children with Down syndrome (mean age at start of treatment, 7.4 months). The mean height of the treated children with Down syndrome increased significantly from -1.8 to -0.8 SDS (Swedish standard) during the 3 years of GH therapy (P < 0.001). The mean height of a corresponding control group fell from -1.7 to -2.2 SDS. After the cessation of treatment, growth velocity declined in the treated group. Growth of the head did not increase during GH treatment. There was no effect on mental or gross-motor development, although some improvement in fine-motor development was noted in the GH-treated group (P < 0.01). At present, treatment with GH is not recommended in children with Down syndrome who have not been diagnosed with GH deficiency. Long-term studies with an emphasis also on the metabolic effects of GH therapy are necessary before routine treatment can be considered in such children.

Body Height↗
PubMed2000

Self-perceived health in Swedish parents of children with Down's syndrome.

In this comparative study, self-perceived health was investigated in 165 parents of 86 children with Down's syndrome (DS), using the Swedish version of the SF-36 questionnaire. Questionnaires were mailed to parents of children with DS in a defined Swedish population. The results were compared with those in a randomised control group of parents from the Swedish SF-36 norm population. Mothers and fathers replied separately. Student's t-test with the Bonferroni correction was used for multiple statistical comparisons. The mothers of children with DS ('DS mothers') had significantly lower, less favourable scores than did the fathers of DS children ('DS fathers') in the Vitality (p < 0.0005) domain. Further, DS mothers spent significantly more time in caring for their child with DS than did the DS fathers (p < 0.0001). DS mothers also had lower scores than the mothers of the control group in the Vitality (p < 0.001) and Mental Health (p < 0.001) domains. DS fathers and control fathers differed significantly in the Mental Health domain (p < 0.002), but not otherwise. In conclusion, DS mothers showed poorer health than their spouses and the control mothers. No differences similar to those found between the DS mothers and DS fathers were observed between control mothers and control fathers.

Adult↗
PubMed1999

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).

We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defined by molecular analysis with polymorphic markers as a de novo interstitial deletion, paternally derived. The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years. She did not have microcephaly, and the mental delay was obvious from an early age without a period of normal development, which makes the diagnosis of Rett syndrome atypical. Previously, a girl with mosaicism for a monosomy 18q associated with Rett syndrome has been described. That girl had a terminal deletion of chromosome 18q, which seems to coincide in part with that in the present girl. It is possible that genes in the distal region of 18q are involved in the etiology of Rett syndrome.

Child↗
PubMed1999

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.

Non-specific X-linked mental retardation is a heterogeneous group of disorders with an incidence of approximately 1 in 500 males. A recently identified gene in Xq12, encoding a Rho-GTPase-activating protein, was found to be mutated in individuals with mental retardation. We describe here two sisters with a 46,XY karyotype and a microdeletion of the oligophrenin-1 gene and 1.1 Mb of flanking DNA. We have characterised the molecular interval defining this microdeletion syndrome with the fibre-FISH technique. A visual physical map of 1.2 Mb was constructed which spans the oligophrenin-1 gene and the androgen receptor gene. The analysis of the patients revealed a deletion which extended from the 5' end of the AR gene to a region approximately 80 kb proximal to the EPLG2 gene. The clinical manifestations of the two sisters include psychomotor retardation, seizures, ataxia, hypotonia and complete androgen insensitivity. Cranial MRI scans show enlargement of the cerebral ventricles and cerebellar hypoplasia. Our findings give further support for the involvement of the oligophrenin-1 gene in specific morphological abnormalities of the brain which is of importance in the investigation of male patients presenting with mental retardation. In combination with our results from physical mapping we suggest that a region around the oligophrenin-1 locus is relatively bereft of vital genes.

Ataxia↗
PubMed1999

Mortality in Down's syndrome in relation to congenital malformations.

Down's syndrome (DS) is the most common form of intellectual disability. The syndrome is characterized by congenital malformations, especially of the heart and gastrointestinal tract, which can result in high mortality rates in the affected population. Many improvements have been made in the medical treatment of this syndrome during the past few decades and the survival of individuals with DS has increased in the industrial world. The aim of the present study was to investigate mortality in relation to congenital malformations. Medical records from all liveborn children with DS delivered between 1973 and 1980 in northern Sweden were studied, and malformations and causes of death were recorded. Out of the 219 children included in the study, a congenital heart defect was reported in 47.5% of subjects, 42.1% of whom had complete atrioventricular septal defect. Gastrointestinal tract malformations were present in 7.3% of subjects, and was frequently associated with a cardiac malformation and a very high mortality rate. Other major and minor congenital anomalies were present in 5.5% and 5.5% of subjects, respectively. In the 14.5-year follow-up of 213 children, the rate of survival was 75.6%. Mortality rates within one and 10 years after birth were 14.6% and 23.5%, respectively. Mortality within 10 years differed significantly between children with (44.1%) and without (4.5%) a congenital heart defect. A very high mortality rate was observed among children with a congenital heart defect, especially when it was combined with a gastrointestinal malformation.

Adolescent↗
PubMed1999

Celiac disease in relation to immunologic serum markers, trace elements, and HLA-DR and DQ antigens in Swedish children with Down syndrome.

BACKGROUND: An association between Down syndrome and celiac disease has been reported. This study was conducted to determine the association between childhood celiac disease and Down syndrome in the county of Uppsala, Sweden. METHODS: All 76 children with Down syndrome (1-18 years) were screened for the occurrence of anti-gliadin antibodies (AGA) and anti-endomysium antibodies (EMA). Twelve children with suspected celiac disease were investigated further. RESULTS: Increased levels of both IgA and IgG AGA were found in 26% of the children and of EMA in and 5 of 76. Celiac disease was diagnosed in at least three of the children (3.9%; 95% confidence interval 0%-8.3%), and it could have been present in as many as eight. Three of the five EMA-positive children with suspected celiac disease had the HLA phenotype DR3, DQ2. CONCLUSIONS: The results show that determination of EMA is more useful as a screening test for celiac disease and for follow-up than is AGA in children with Down syndrome. The present study also confirms that celiac disease is overrepresented among Swedish children with Down syndrome and that celiac disease should be considered in all persons with Down syndrome.

Adolescent↗
PubMed1999

Growth hormone treatment in young children with Down's syndrome: effects on growth and psychomotor development.

BACKGROUND: Learning disability and short stature are cardinal signs of Down's syndrome. Insulin-like growth factor I (IGF-I), regulated by growth hormone (GH) from about 6 months of age, may be involved in brain development. AIMS: To study long term effects of GH on linear growth and psychomotor development in young children with Down's syndrome. Study design-Fifteen children with Down's syndrome were treated with GH for three years from the age of 6 to 9 months (mean, 7.4). Linear growth, psychomotor development, skeletal maturation, serum concentrations of IGF-I and its binding proteins (BPs), and cerebrospinal fluid (CSF) concentrations of IGF-II were studied. RESULTS: The mean height of the study group increased from -1.8 to -0.8 SDS (Swedish standard) during treatment, whereas that of a Down's syndrome control group fell from -1.7 to -2.2 SDS. Growth velocity declined after treatment stopped. Head growth did not accelerate during treatment. No significant difference in mental or gross motor development was found. The low concentrations of serum IGF-I and IGFBP-3 became normal during GH treatment. CONCLUSIONS: GH treatment results in normal growth velocity in Down's syndrome but does not affect head circumference or mental or gross motor development. Growth velocity declines after treatment stops.

Age Determination by Skeleton↗
PubMed1998

Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation.

A 20-year-old man with multiple anomalies caused by a de novo duplication of the long arm of chromosome 1 is presented. The patient suffers from severe mental retardation, epilepsy, bronchial stenosis, and minor anomalies (e.g., hirsutism, midface dysplasia, and beaked nose). A G-banding analysis of the patient's chromosomes showed additional segments in chromosome 1. Fluorescent in situ hybridisation analysis with a chromosome 1 painting probe showed that the extra material originated from chromosome 1. Further analysis with cosmid probes demonstrated that the region involving chromosome bands 1q31 to q41 is present in a tandem duplication.

Abnormalities, Multiple↗
PubMed1998

Thyroid dysfunction in Down's syndrome: relation to age and thyroid autoimmunity.

BACKGROUND: The prevalence of thyroid disease is increased in Down's syndrome. Most available data come from cross sectional studies. AIMS: To study longitudinally thyroid function in patients with Down's syndrome in Uppsala county (85 patients) up to the age of 25 years. METHODS: Observational study based on yearly follow up in a children's clinic. Thyroid function tests were performed at each visit to the clinic. RESULTS: Hypothyroidism was found in 30 and hyperthyroidism was found in two of the 85 patients. No sex difference was seen. Half of the patients with hypothyroidism acquired the condition before the age of 8 years, but only one of them displayed thyroid autoantibodies at diagnosis. Most patients who developed hypothyroidism after this age had thyroid autoantibodies. In the prepubertal patients with hypothyroidism, growth velocity was lower during the year before the start of thyroxine treatment than during the year after treatment began; it was also lower than that of sex and age matched euthyroidic children with Down's syndrome. CONCLUSION: Thyroid dysfunction in patients with Down's syndrome is common in childhood. Consequently, annual screening is important. Autoimmune thyroid disease is uncommon in young children with Down's syndrome but is common after 8 years of age.

Adolescent↗