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| 2. |
- Frid, Christina, et al.
(författare)
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Maternal and neonatal factors and mortality in children with Down syndrome born in 1973-1980 and 1995-1998
- 2004
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 93:1, s. 106-112
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Tidskriftsartikel (refereegranskat)abstract
- AIMS:To investigate maternal and neonatal factors in Down syndrome (DS) at birth, the impact of a congenital heart defect (CHD) on these factors and changes over time.METHODS:Medical data of children with DS born in northern Sweden in the periods 1973-1980 (n = 219) and 1995-1998 (n = 88) obtained from the Swedish Medical Birth Register were compared. A comparison with the general population on a group level was also made.RESULTS:The main finding was a reduction in infant mortality in DS, from 14.2% to 2.3% in 1995-1998 (p < 0.001), but this was still significantly higher than in the general population. The rate of Caesarean sections increased over time (from 14.5% to 27.3%, p < 0.05) even after adjustment for increased maternal age. No change over time was detected in the following rates: premature birth (gestational age < or = 36) (25%); asphyxia (5-min Apgar score < or = 6) (8%); low birthweight (< 2500 g) (14%); or small for gestational age (SGA) (14%); all rates were significantly higher than those of the general population. A CHD did not seem to influence the rates of these factors in a logistic regression model.CONCLUSION:Infant mortality decreased substantially over time in the DS group, whereas there was no reduction in the rate of asphyxia, SGA, low birthweight or prematurity. The presence of a CHD did not influence any of the neonatal factors studied.
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| 3. |
- Hedov, Gerth, et al.
(författare)
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First information and support provided to parents of children with Down syndrome : clinical goals and parental experiences
- 2002
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 91:2, s. 1344-1349
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Tidskriftsartikel (refereegranskat)abstract
- When parents are informed that their newborn child has Down syndrome (DS), they often respond with a traumatic crisis reaction. The aims of this study were to assess the clinical goals regarding the first information and support provided to parents of newborn children with DS at the Swedish paediatric departments, and to analyse the parents' experiences of how they were first informed and treated. Data were collected during 1992-1993 from all of the 51 departments of paediatrics in Sweden. Information on the parents' experiences, collected retrospectively in 1996, was based on recollection by 165 parents of 86 children with DS born between 1989 and 1993 at 10 of the paediatric departments considered representative for Sweden. Seventy-five percent of the families were informed about the diagnosis within 24 h post partum. Some parents felt they were informed too late, and a few parents that they were told too soon. Half of the parents were satisfied with the timing. About 70% of the parents considered the information insufficient and 60% felt that they had been unsupported. Seventy percent would have liked more frequent information. Parental criticisms concerning the way in which the information was provided were that they received too much negative information about DS and that both the communication skills and the basic knowledge of DS on the part of the professionals could have been better. CONCLUSION: The Swedish paediatric departments fall short of their reported strong clinical goals regarding the initial information in Sweden, and improvements in this area are desirable.
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| 4. |
- Myrelid, Åsa, 1974-, et al.
(författare)
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Increased neonatal thyrotropin in Down syndrome
- 2009
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 98:6, s. 1010-1013
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Tidskriftsartikel (refereegranskat)abstract
- AIM: Down syndrome (DS) is frequently associated with thyroid dysfunction. The aim of this study was to investigate the blood concentration of thyrotropin (TSH) observed at neonatal screening of infants with DS and its possible association with development of hypothyroidism during childhood. METHODS: TSH levels from neonatal screening of 73 children (34 F) with DS born in 1986-1996 were studied retrospectively and compared with those of controls. The DS children were followed up regarding thyroid function to the age of 10 years in this descriptive study. RESULTS: The DS infants had a higher mean TSH level and a higher TSH standard deviation score (SDS) than controls (7.0 +/- 7.45 mU/L vs. 3.9 +/- 2.43 mU/L and 1.1 +/- 2.67 vs. 0, respectively). The differences were mainly attributable to higher values in the male DS children. The TSH level at screening did not predict thyroid dysfunction during childhood. CONCLUSION: Infants with DS, especially boys, showed elevated levels of TSH at neonatal screening, indicating the occurrence of mild hypothyroidism already in early life. The TSH levels could not predict development of manifest thyroid disease later in childhood.
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| 5. |
- Myrelid, Åsa, 1974-, et al.
(författare)
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Late effects of early growth hormone treatment in Down syndrome
- 2010
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 99:5, s. 763-769
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Down syndrome (DS) is associated with short stature and psychomotor delay. We have previously shown that growth hormone (GH) treatment during infancy and childhood normalizes growth velocity and improves fine motor skill performance in DS. The aim of this study was to investigate late effects of early GH treatment on growth and psychomotor development in the DS subjects from the previous trial. Design: Twelve of 15 adolescents with DS (3 F) from the GH group and 10 of 15 controls (5 F) participated in this follow-up study. Fifteen other subjects with DS (6 F) were included as controls in anthropometric analyses. Cognitive function was assessed with the Leiter International Performance Scale-Revised (Leiter-R) and selected subtests of the Wechsler Intelligence Scale for Children, Third edition (WISC-III). The Bruininks-Oseretsky Test of Motor Proficiency, Second edition (BOT-2), was used to assess general motor ability. Results: Although early GH treatment had no effect on final height, the treated subjects had a greater head circumference standard deviation score (SDS) than the controls (-1.6 SDS vs. -2.2 SDS). The adolescents previously treated with GH had scores above those of the controls in all subtests of Leiter-R and WISC-III, but no difference in Brief IQ-score was seen between the groups. The age-adjusted motor performance of all subjects was below -2 SD, but the GH-treated subjects performed better than the controls in all but one subtest. Conclusion: The combined finding of a greater head circumference SDS and better psychomotor performance indicates that DS subjects may benefit from early GH treatment.
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| 6. |
- Nyström, Anna-Maja, et al.
(författare)
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A severe form of Noonan syndrome and autosomal dominant café-au-lait spots : evidence for different genetic origins
- 2009
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 98:4, s. 693-698
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Tidskriftsartikel (refereegranskat)abstract
- Aim: The clinical overlap among Noonan syndrome (NS), cardio-facio-cutaneous (CFC), LEOPARD and Costello syndromes as well as Neurofibromatosis type 1 is extensive, which complicates the process of diagnosis. Further genotype–phenotype correlations are required to facilitate future diagnosis of these patients. Therefore, investigations of the genetic cause of a severe phenotype in a patient with NS and the presence of multiple café-au-lait spots (CAL) spots in the patient and four members of the family were performed. Methods: Mutation analyses of candidate genes, PTPN11, NF1, SPRED1 and SPRED2, associated with these syndromes, were conducted using DNA sequencing. Results: A previously identified de novo mutation, PTPN11 F285L and an inherited NF1 R1809C substitution in the index patient were found. However, neither PTPN11 F285L, NF1 R1809C, SPRED1 nor SPRED2 segregated with CAL spots in the family. The results indicate that the familial CAL spots trait in this family is caused by a mutation in another gene, distinct from previous genes associated with CAL spots in these syndromes. Conclusion: We suggest that the atypical severe symptoms in the index patient may be caused by an additive effect on the F285L mutation in PTPN11 by another mutation, for example the NF1 R1809C or alternatively, the not yet identified gene mutation associated with CAL spots in this family.
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| 7. |
- Söderbergh, Annika, et al.
(författare)
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Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome
- 2006
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 95:12, s. 1657-1660
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Patients with Down syndrome are prone to autoimmune diseases which also occur in the recessive disease autoimmune polyendocrine syndrome type I (APS I). Since this disease is caused by mutations in the gene AIRE on chromosome 21, one might speculate that altered expression of AIRE contributes to autoimmune disease in Down syndrome. AIM: To study the prevalence of 11 well-defined autoantibodies, five of which are specific for APS I, associated with various manifestations of APS I in patients with Down syndrome. METHODS: Sera from 48 patients with Down syndrome were analysed. Autoantibodies against 21-hydroxylase, 17alpha-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, cytochrome P4501A2, tyrosine hydroxylase, tryptophan hydroxylase, glutamic acid decarboxylase 65, tyrosine phosphatase IA-2 and transglutaminase were analysed using an immunoprecipitation assay, and thyroid peroxidase autoantibodies were measured using a haemagglutination assay. RESULTS: Seven of 48 patients had elevated titres of autoantibodies: one against 21-hydroxylase, three against aromatic L-amino acid decarboxylase, one against cytochrome P4501A2, one against glutamic acid decarboxylase 65 and one against tyrosine phosphatase IA-2. None of the patients had clinical or laboratory signs of disease coupled to the respective autoantibody. CONCLUSION: Four patients with Down syndrome had autoantibodies hitherto regarded as unique for APS I, which may suggest a dysregulation of AIRE.
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| 8. |
- Wester Oxelgren, Ulrika, 1960-, et al.
(författare)
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Autism needs to be considered in children with Down Syndrome
- 2019
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 108:11, s. 2019-2026
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Tidskriftsartikel (refereegranskat)abstract
- Aim: To analyse levels and profiles of autism symptoms in children with Down Syndrome (DS) with and without diagnosed autism spectrum disorder (ASD) and to specifically study the groups with severe Intellectual Disability (ID).Methods: From a population‐based cohort of 60 children with DS (age 5–17 years) with 41 participating children, scores obtained from the Autism Diagnostic Observation Schedule (ADOS) Module‐1 algorithm were compared between those with and without diagnosed ASD. Children with DS and ASD were also compared to a cohort of children with idiopathic ASD, presented in the ADOS manual.Results: Children with DS and ASD had significantly higher ADOS scores in all domains compared to those without ASD. When the groups with DS, with and without ASD, were restricted to those with severe ID, the difference remained. When the children with DS and ASD and the idiopathic autism group were compared, the ADOS profiles were similar.Conclusion: A considerable proportion of children with DS has ASD, but there is also a group of children with DS and severe ID without autism. There is a need to increase awareness of the high prevalence of autism in children with DS to ensure that appropriate measures and care are provided.
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| 9. |
- Wester Oxelgren, Ulrika, 1960-, et al.
(författare)
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More severe intellectual disability found in teenagers compared to younger children with Down syndrome
- 2019
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 108:5, s. 961-966
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Tidskriftsartikel (refereegranskat)abstract
- Aim: We investigated the severities and profiles of intellectual disability (ID) in a population-based group of children with Down syndrome and related the findings to coexisting autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD).Methods: There were about 100 children with Down syndrome living in Uppsala County, Sweden, at the time of the study who all received medical services from the same specialist outpatient clinic. The 60 children (68% male) were aged 5-17 years at inclusion: 41 were assessed within the study and 19 had test results from previous assessments, performed within three years before inclusion. We compared two age groups: 5-12 and 13-18 years old.Results: Of the 60 children, 49 were assessed with a cognitive test and the 11 children who could not participate in formal tests had clinical assessments. Mild ID was found in 9% of the older children and in 35% of the younger children. Severe ID was found in 91% of the older children and 65% of the younger children. Verbal and nonverbal domains did not differ.Conclusion: Intellectual level was lower in the older children and patients with Down syndrome need to be followed during childhood with regard to their ID levels.
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