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Wester Oxelgren, U., Westerlund, J., Myrelid, Å., Annerén, G., Johansson, L., Åberg, M., . . . Frenell, E. (2019). An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study. Neuropsychiatric Disease and Treatment, 15, 2049-2056
Open this publication in new window or tab >>An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study
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2019 (English)In: Neuropsychiatric Disease and Treatment, ISSN 1176-6328, E-ISSN 1178-2021, Vol. 15, p. 2049-2056Article in journal (Refereed) Published
Abstract [en]

Purpose: To evaluate whether an intervention, targeting deficits in social communication, interaction and restricted activities in children and adolescents with Down syndrome and autism could lead to enhanced participation in family and school activities.

Methods: The intervention included education for parents and school staff about autism, and workshops to identify social-communication and daily living activities that would be meaningful for the child to practice at home and at school. Thereafter, a three-month period of training for the child followed. Outcome measures comprised evaluation of goal achievement for each child, the “Family Strain Index” questionnaire and a visual scale pertaining to the parents´ general opinion about the intervention.

Results: On average, more than 90% of the goals were (to some extent or completely) achieved at home and at school. The mean scores of the “Family Strain Index” were almost identical at the follow-up to those before intervention. The evaluation supported that the use of strategies, intended to facilitate activities and communication, remained largely 18 months after start of the intervention.

Conclusion: Despite the group involved in this study being comprised of older children and adolescents, most of whom had severe and profound intellectual disability, the goal achievements and parents’ views on the intervention were encouraging.

National Category
Pediatrics
Research subject
Pediatrics
Identifiers
urn:nbn:se:uu:diva-381069 (URN)10.2147/NDT.S205721 (DOI)000476857800001 ()31410008 (PubMedID)
Available from: 2019-04-04 Created: 2019-04-04 Last updated: 2019-08-30Bibliographically approved
Decker, R., Albertsson-Wikland, K., Kriström, B., Halldin, M., Gustafsson, J., Nilsson, N.-Ö. & Dahlgren, J. (2019). GH Dose Reduction Maintains Normal Prepubertal Height Velocity After Initial Catch-Up Growth in Short Children. Journal of Clinical Endocrinology and Metabolism, 104(3), 835-844
Open this publication in new window or tab >>GH Dose Reduction Maintains Normal Prepubertal Height Velocity After Initial Catch-Up Growth in Short Children
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2019 (English)In: Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, E-ISSN 1945-7197, Vol. 104, no 3, p. 835-844Article in journal (Refereed) Published
Abstract [en]

Context: GH responsiveness guides GH dosing during the catch-up growth (CUG) period; however, little is known regarding GH dosing during the prepubertal maintenance treatment period.

Objective: To evaluate whether SD score (SDS) channel parallel growth with normal height velocity can be maintained after CUG by reducing the GH dose by 50% in children receiving doses individualized according to estimated GH responsiveness during the catch-up period.

Design and Settings: Prepubertal children (n = 98; 72 boys) receiving GH during CUG (GH deficient, n = 33; non-GH deficient, n = 65), were randomized after 2 to 3 years to either a 50% reduced individualized dose (GHRID; n = 27; 20 boys) or unchanged individualized dose (GHUID; n = 38; 27 boys). Another 33 children (25 boys) continued a standard weight-based dose [43 μg/kg/d (GHFIX)].

Main Outcome Measures: The primary endpoint was the proportion of children with ΔheightSDS within ±0.3 at 1 year after GH dose reduction compared with two control groups: GHUID and GHFIX. The hypothesis was that heightSDS could be maintained within ±0.3 with a reduced individualized GH dose.

Results: For the intention-to-treat population at 1 year, 85% of the GHRIDgroup maintained ΔheightSDS within ±0.3 vs 41% in the GHUIDgroup (P = 0.0055) and 48% in the GHFIXgroup (P = 0.0047). The ΔIGF-ISDS in the GHRID group was -0.75 ± 1.0 at 3 months (P = 0.003) and -0.72 ± 1.2 at 1 year compared with the GHUID group (0.15 ± 1.2; P = 0.005) and GHFIX group (0.05 ± 1.0; P = 0.02).

Conclusions: Channel parallel growth (i.e., normal height velocity) and IGF-ISDS levels within ± 2 were maintained after completed CUG using a 50% lower individualized dose than that used during the CUG period.

National Category
Pediatrics Endocrinology and Diabetes
Identifiers
urn:nbn:se:uu:diva-381823 (URN)10.1210/jc.2018-01006 (DOI)000462737000034 ()30339244 (PubMedID)
Funder
Swedish Research Council, 522-2005-7238Swedish Research Council, 7509
Available from: 2019-04-18 Created: 2019-04-18 Last updated: 2019-04-18Bibliographically approved
Ostman, J. R., Mullner, E., Eriksson, J., Kristinsson, H., Gustafsson, J., Witthoft, C., . . . Moazzami, A. A. (2019). Glucose Appearance Rate Rather than the Blood Glucose Concentrations Explains Differences in Postprandial Insulin Responses between Wholemeal Rye and Refined Wheat Breads-Results from A Cross-Over Meal Study. Molecular Nutrition & Food Research, 63(7), Article ID 1800959.
Open this publication in new window or tab >>Glucose Appearance Rate Rather than the Blood Glucose Concentrations Explains Differences in Postprandial Insulin Responses between Wholemeal Rye and Refined Wheat Breads-Results from A Cross-Over Meal Study
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2019 (English)In: Molecular Nutrition & Food Research, ISSN 1613-4125, E-ISSN 1613-4133, Vol. 63, no 7, article id 1800959Article in journal (Refereed) Published
Abstract [en]

Scope Ingestion of rye bread leads to lower postprandial plasma insulin concentrations than wheat bread ingestion, but most often not too different glucose profiles. The mechanism behind this discrepancy is still largely unknown. This study investigates whether glucose kinetics may explain the observed discrepancy. Methods and results Nine healthy men participated in a crossover study, eating 50 g of available carbohydrates as either refined wheat (WB) or traditional wholemeal rye bread (WMR) during d-[6,6-H-2(2)]glucose infusion. Labeled glucose enrichment is measured by an HPLC-TOF-MS method. The calculated rate of glucose appearance (RaE) is significantly lower after ingestion of WMR during the initial 15 min postprandial period. Additionally, the 0-90 min RaE area under the curve (AUC) is significantly lower after ingestion of WMR, as is plasma gastric inhibitory polypeptide (GIP) at 60 and 90 min. Postprandial glycemic responses do not differ between the breads. Postprandial insulin is lower after ingestion of WMR at 45 and 60 min, as is the 0-90 min AUC. Conclusion Ingestion of WMR elicits a lower rate of glucose appearance into the bloodstream compared with WB. This may explain the lower insulin response observed after rye bread ingestion, commonly known as the rye factor.

Keywords
glucose flux, rye factor, stable isotope labeled glucose, time-of-flight mass spectrometry, wholemeal rye bread
National Category
Nutrition and Dietetics
Identifiers
urn:nbn:se:uu:diva-383481 (URN)10.1002/mnfr.201800959 (DOI)000466411200004 ()30636184 (PubMedID)
Funder
Swedish Research Council Formas
Available from: 2019-05-16 Created: 2019-05-16 Last updated: 2019-05-16Bibliographically approved
Gustafsson, J. (2019). Metabolic syndrome in children. Acta Paediatrica, 108(3), 394-395
Open this publication in new window or tab >>Metabolic syndrome in children
2019 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, no 3, p. 394-395Article in journal, Editorial material (Other academic) Published
Place, publisher, year, edition, pages
John Wiley & Sons, 2019
National Category
Pediatrics
Identifiers
urn:nbn:se:uu:diva-378232 (URN)10.1111/apa.14677 (DOI)000458391200002 ()30576010 (PubMedID)
Available from: 2019-03-15 Created: 2019-03-15 Last updated: 2019-03-15Bibliographically approved
Wester Oxelgren, U., Myrelid, Å., Annerén, G., Westerlund, J., Gustafsson, J. & Fernell, E. (2019). More severe intellectual disability found in teenagers compared to younger children with Down syndrome.. Acta Paediatrica, 108(5), 961-966
Open this publication in new window or tab >>More severe intellectual disability found in teenagers compared to younger children with Down syndrome.
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2019 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, no 5, p. 961-966Article in journal (Refereed) Published
Abstract [en]

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.

Keywords
Attention deficit hyperactivity disorder, Autism spectrum disorder, Cognitive profile, Down syndrome, Intellectual disability
National Category
Pediatrics
Identifiers
urn:nbn:se:uu:diva-380997 (URN)10.1111/apa.14624 (DOI)000465091200027 ()30372566 (PubMedID)
Available from: 2019-04-03 Created: 2019-04-03 Last updated: 2019-05-14Bibliographically approved
Johnsson, I. W., Naessén, T., Ahlsson, F. & Gustafsson, J. (2018). High birth weight was associated with increased radial artery intima thickness but not with other investigated cardiovascular risk factors in adulthood. Acta Paediatrica, 12, 2152-2157
Open this publication in new window or tab >>High birth weight was associated with increased radial artery intima thickness but not with other investigated cardiovascular risk factors in adulthood
2018 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 12, p. 2152-2157Article in journal (Refereed) Published
Abstract [en]

AIM: This study investigated whether a high birth weight was associated with increased risk factors for cardiovascular disease when Swedish adults reached 34-40.

METHODS: We studied 27 subjects born at Uppsala University Hospital in 1975-1979, weighing at least 4500 g, and compared them with 27 controls selected by the Swedish National Board of Welfare with birth weights within ±1 standard deviations scores and similar ages and gender. The study included body mass index (BMI), blood pressure, lipid profile, haemoglobin A1c (HbA1c), C-reactive protein (CRP) and high-frequency ultrasound measurements of intima-media thickness, intima thickness (IT) and intima:media ratio of the carotid and radial arteries.

RESULTS: Subjects with a high birth weight did not differ from controls with regard to BMI, blood pressure, lipid profile, high-sensitivity CRP, HbA1c or carotid artery wall dimensions. However, their radial artery intima thickness was 37% greater than the control group and their intima:media ratio was 44% higher.

CONCLUSION: Our findings indicate that a high birth weight was associated with increased radial artery intima thickness, but not with other investigated cardiovascular risk factors, at 34-40 years of age. The clinical implications of these findings should be investigated further, especially in subjects born with a very high birth weight.

Keywords
Cardiovascular risk factors, High birth weight, Intima thickness, Intima:media ratio, Large for gestational age
National Category
Pediatrics Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:uu:diva-364690 (URN)10.1111/apa.14414 (DOI)000449638100022 ()29791055 (PubMedID)
Funder
Novo Nordisk
Available from: 2018-10-31 Created: 2018-10-31 Last updated: 2019-01-22Bibliographically approved
Gyllenhammar, I., Diderholm, B., Gustafsson, J., Berger, U., Ridefelt, P., Benskin, J. P., . . . Glynn, A. (2018). Perfluoroalkyl acid levels in first-time mothers in relation to offspring weight gain and growth. Environment International, 111, 191-199
Open this publication in new window or tab >>Perfluoroalkyl acid levels in first-time mothers in relation to offspring weight gain and growth
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2018 (English)In: Environment International, ISSN 0160-4120, E-ISSN 1873-6750, Vol. 111, p. 191-199Article in journal (Refereed) Published
Abstract [en]

We investigated if maternal body burdens of perfluoroalkyl acids (PFAAs) at the time of delivery are associated with birth outcome and if early life exposure (in utero/nursing) is associated with early childhood growth and weight gain. Maternal PFAA body burdens were estimated by analysis of serum samples from mothers living in Uppsala County, Sweden (POPUP), sampled three weeks after delivery between 1996 and 2011. Data on child length and weight were collected from medical records and converted into standard deviation scores (SDS). Multiple linear regression models with appropriate covariates were used to analyze associations between maternal PFAA levels and birth outcomes (n=381). After birth Generalized Least Squares models were used to analyze associations between maternal PFAA and child growth (n=200). Inverse associations were found between maternal levels of perfluorononanoic acid (PFNA), perfluorodecanoic acid (PFDA), and perfluoroundecanoic acid (PFUnDA), and birth weight SDS with a change of -0.10 to -0.18 weight SDS for an inter-quartile range (IQR) increase in ng/g PFAA. After birth, weight and length SDS were not significantly associated with maternal PFAA. However, BMI SDS was significantly associated with PFOA, PFNA, and PFHxS at 3 and 4years of age, and with PFOS at 4 and 5years of age. If causal, these associations suggest that PFAA affects fetal and childhood body development in different directions.

National Category
Clinical Medicine
Identifiers
urn:nbn:se:uu:diva-343486 (URN)10.1016/j.envint.2017.12.002 (DOI)000423441500020 ()29223808 (PubMedID)
Funder
Swedish Environmental Protection Agency, 219 1202Swedish Research Council Formas, 2010-1300Swedish Civil Contingencies Agency, dnr 1637/2012
Available from: 2018-02-27 Created: 2018-02-27 Last updated: 2018-03-07Bibliographically approved
Nylander, C., Tindberg, Y., Haas, J., Swenne, I., Torbjörnsdotter, T., Åkesson, K., . . . Fernell, E. (2018). Self- and parent-reported executive problems in adolescents with type 1 diabetes are associated with poor metabolic control and low physical activity.. Pediatric Diabetes, 19(1), 98-105
Open this publication in new window or tab >>Self- and parent-reported executive problems in adolescents with type 1 diabetes are associated with poor metabolic control and low physical activity.
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2018 (English)In: Pediatric Diabetes, ISSN 1399-543X, E-ISSN 1399-5448, Vol. 19, no 1, p. 98-105Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Management of diabetes is demanding and requires efficient cognitive skills, especially in the domain of executive functioning. However, the impact of impaired executive functions on diabetes control has been studied to a limited extent. The aim of the study is to investigate the association between executive problems and diabetes control in adolescents with type 1 diabetes.

MATERIALS AND METHODS: Two hundred and forty-one of 477 (51%) of 12- to 18-year-old adolescents, with a diabetes duration of >2 years in Stockholm, Uppsala, and Jönköping participated. Parents and adolescents completed questionnaires, including Behavioral Rating Inventory of Executive Function (BRIEF), Attention-Deficit/Hyperactivity Disorder (ADHD)-Rating Scale (ADHD-RS) and demographic background factors. Diabetes-related data were collected from the Swedish Childhood Diabetes Registry, SWEDIABKIDS. Self-rated and parent-rated executive problems were analyzed with regard to gender, glycosylated hemoglobin (HbA1c), frequency of outpatient visits, and physical activity, using chi-square tests or Fisher's test, where P-values <.05 were considered significant. Furthermore, adjusted logistic regressions were performed with executive problems as independent variable.

RESULTS: Executive problems, according to BRIEF and/or ADHD-RS were for both genders associated with mean HbA1c >70 mmol/mol (patient rating P = .000, parent rating P = .017), a large number of outpatient visits (parent rating P = .015), and low physical activity (patient rating P = .000, parent rating P = .025). Self-rated executive problems were more prevalent in girls (P = .032), while parents reported these problems to a larger extent in boys (P = .028).

CONCLUSION: Executive problems are related to poor metabolic control in adolescents with type 1 diabetes. Patients with executive problems need to be recognized by the diabetes team and the diabetes care should be organized to provide adequate support for these patients.

Keywords
HbA1c, adolescents, neurodevelopmental problems, type 1 diabetes mellitus
National Category
Endocrinology and Diabetes
Identifiers
urn:nbn:se:uu:diva-332701 (URN)10.1111/pedi.12520 (DOI)000423397600014 ()28318073 (PubMedID)
Funder
Swedish Child Diabetes Foundation
Available from: 2017-10-31 Created: 2017-10-31 Last updated: 2018-03-07Bibliographically approved
Jackmann, N., Harila-Saari, A. H., Mäkitie, O., Gustafsson, J., Dernroth, D. N. & Frisk, P. (2018). Vitamin D Status in Children with Leukemia. Paper presented at 60th Annual Meeting of the American-Society-of-Hematology (ASH), DEC 01-04, 2018, San Diego, CA. Blood, 132
Open this publication in new window or tab >>Vitamin D Status in Children with Leukemia
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2018 (English)In: Blood, ISSN 0006-4971, E-ISSN 1528-0020, Vol. 132Article in journal, Meeting abstract (Other academic) Published
Place, publisher, year, edition, pages
AMER SOC HEMATOLOGY, 2018
National Category
Hematology
Identifiers
urn:nbn:se:uu:diva-378243 (URN)10.1182/blood-2018-99-119557 (DOI)000454842803009 ()
Conference
60th Annual Meeting of the American-Society-of-Hematology (ASH), DEC 01-04, 2018, San Diego, CA
Available from: 2019-03-08 Created: 2019-03-08 Last updated: 2019-03-08Bibliographically approved
Dalin, F., Nordling Eriksson, G., Dahlqvist, P., Hallgren, Å., Wahlberg, J., Ekwall, O., . . . Bensing, S. (2017). Clinical and immunological characteristics of Autoimmune Addison's disease: a nationwide Swedish multicenter study. Journal of Clinical Endocrinology and Metabolism, 102(2), 379-389
Open this publication in new window or tab >>Clinical and immunological characteristics of Autoimmune Addison's disease: a nationwide Swedish multicenter study
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2017 (English)In: Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, E-ISSN 1945-7197, Vol. 102, no 2, p. 379-389Article in journal (Refereed) Published
Abstract [en]

CONTEXT: Studies on clinical and immunological features of Autoimmune Addison's disease (AAD) are needed to understand the disease burden and increased mortality.

OBJECTIVE: To provide upgraded data on autoimmune comorbidities, replacement therapy, autoantibody profiles and cardiovascular risk factors.

DESIGN, SETTING AND PARTICIPANTS: Cross sectional, population-based study. 660 AAD patients were included utilizing the Swedish Addison Registry (SAR) 2008-2014. When analyzing cardiovascular risk factors, 3,594 individuals from the population-based survey in Northern Sweden, MONICA (MONItoring of Trends and Determinants of CArdiovascular Disease), served as controls.

MAIN OUTCOME MEASURE: Prevalence of autoimmune comorbidities and cardiovascular risk factors. Autoantibodies against 13 autoantigens were determined.

RESULTS: Sixty percent of the SAR cohort consisted of females. Mean age at diagnosis was significantly higher for females than for males (36.8 vs. 31.1 years). The proportion of 21-hydroxylase autoantibody positive patients was 83% and 62% of patients had one or more associated autoimmune diseases, more frequently coexisting in females (p<0.0001). AAD patients had lower BMI (p<0.0001) and prevalence of hypertension (p=0.027) compared with controls. Conventional hydrocortisone tablets were used by 89% of patients; with the mean dose 28.1±8.5 mg/day. The mean hydrocortisone equivalent dose normalized to body surface was 14.8±4.4 mg/m(2)/day. Higher hydrocortisone equivalent dose was associated with higher incidence of hypertension (p=0.046).

CONCLUSIONS: Careful monitoring of AAD patients is warranted to detect associated autoimmune diseases. Contemporary Swedish AAD patients do not have increased prevalence of overweight, hypertension, T2DM or hyperlipidemia. However, high glucocorticoid replacement doses may be a risk factor for hypertension.

Place, publisher, year, edition, pages
Oxford University Press, 2017
National Category
Medical and Health Sciences Endocrinology and Diabetes
Research subject
Endocrinology and Diabetology
Identifiers
urn:nbn:se:uu:diva-318344 (URN)10.1210/jc.2016-2522 (DOI)000397240900009 ()27870550 (PubMedID)
Funder
EU, FP7, Seventh Framework Programme, 201167Novo Nordisk, NNF13OC0005975 NNF15OC0015922 NNF14OC0011003Åke Wiberg FoundationTore Nilsons Stiftelse för medicinsk forskningMarianne and Marcus Wallenberg FoundationSwedish Society of MedicineTorsten Söderbergs stiftelseRagnar Söderbergs stiftelseSwedish Research CouncilThe Karolinska Institutet's Research FoundationSwedish Society for Medical Research (SSMF)Stockholm County Council
Available from: 2017-03-24 Created: 2017-03-24 Last updated: 2019-02-26Bibliographically approved
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0002-7540-438x

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