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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
Wester Oxelgren, U., Åberg, M., Myrelid, Å., Annerén, G., Westerlund, J., Gustafsson, J. & Fernell, E. (2019). Autism needs to be considered in children with Down Syndrome. Acta Paediatrica, 108(11), 2019-2026
Open this publication in new window or tab >>Autism needs to be considered in children with Down Syndrome
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2019 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, no 11, p. 2019-2026Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
WILEY, 2019
Keywords
Autism spectrum disorder, Behavioural phenotype, Down Syndrome, Intellectual Disability
National Category
Psychiatry Pediatrics
Identifiers
urn:nbn:se:uu:diva-396522 (URN)10.1111/apa.14850 (DOI)000489595000013 ()31090964 (PubMedID)
Available from: 2019-11-06 Created: 2019-11-06 Last updated: 2019-11-06Bibliographically approved
Wester Oxelgren, U., Åberg, M., Myrelid, Å., Annerén, G., Westerlund, J., Gustafsson, J. & Fernell, E. (2019). Autism needs to be considered in children with Down syndrome. Acta Paediatrica, 108(11), 2019-2026
Open this publication in new window or tab >>Autism needs to be considered in children with Down syndrome
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2019 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, no 11, p. 2019-2026Article in journal (Refereed) Published
Abstract [en]

Aim: To compare levels and profiles of autistic symptoms in children with Down syndrome (DS) with diagnosed autism spectrum disorder (ASD), with those with DS without ASD and with children with idiopathic autism.

Methods From a population-based cohort of 60 children with DS (age 5-17 years) with 41 participating, those with ASD were compared to those without ASD using the scores obtained with the Autism Diagnostic Observation Schedule (ADOS) Module-1 algorithm.

Results: Children with both 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 intellectual disability (ID), the difference remained. When the children with DS and ASD were compared with a group with idiopathic autism, the ADOS profile was broadly similar.

Conclusion: A considerable proportion of children with DS, exhibit autism in addition to severe ID. In addition, there is also a group of children with DS and severe ID, but without autism. There is a need to increase awareness of the high prevalence of autism in children with DS. Recognizing the prevalence of autism is important for the appropriate diagnosis and care of children with DS.

National Category
Psychiatry
Research subject
Pediatrics
Identifiers
urn:nbn:se:uu:diva-381066 (URN)10.1111/apa.14850 (DOI)000489595000013 ()31090964 (PubMedID)
Available from: 2019-04-04 Created: 2019-04-04 Last updated: 2019-11-06Bibliographically 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
Wester Oxelgren, U., Myrelid, Å., Annerén, G., Ekstam, B., Göransson, C., Holmbom, A., . . . Fernell, E. (2017). Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study. Developmental Medicine & Child Neurology, 59(3), 276-283
Open this publication in new window or tab >>Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study
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2017 (English)In: Developmental Medicine & Child Neurology, ISSN 0012-1622, E-ISSN 1469-8749, Vol. 59, no 3, p. 276-283Article in journal (Refereed) Published
Abstract [en]

AIM To investigate the prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) in a population-based group of children and adolescents with Down syndrome, and to relate the findings to level of intellectual disability and to medical conditions. METHOD From a population-based cohort of 60 children and adolescents with Down syndrome, 41 individuals (29 males, 12 females; mean age 11y, age range 5-17y) for whom parents gave consent for participation were clinically assessed with regard to ASD and ADHD. The main instruments used were the Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, Swanson, Nolan, and Pelham-IV Rating Scale, and the Adaptive Behavior Assessment System-II. RESULTS High rates of ASD and ADHD were found: 17 (42%) and 14 (34%) of the 41 children met DSM criteria for ASD and ADHD respectively. INTERPRETATION Children with Down syndrome and coexisting neurodevelopmental/neuropsychiatric disorders in addition to intellectual disability and medical disorders constitute a severely disabled group. Based on the results, we suggest that screening is implemented for both ASD and ADHD, at the age of 3 to 5 years and early school years respectively, to make adequate interventions possible.

Place, publisher, year, edition, pages
WILEY, 2017
National Category
Neurology Pediatrics
Identifiers
urn:nbn:se:uu:diva-320266 (URN)10.1111/dmcn.13217 (DOI)000397320200012 ()27503703 (PubMedID)
Available from: 2017-04-18 Created: 2017-04-18 Last updated: 2019-04-12Bibliographically approved
Myrelid, Å., Bergman, S., Elfvik Strömberg, M., Jonsson, B., Nyberg, F., Gustafsson, J. & Annerén, G. (2010). Late effects of early growth hormone treatment in Down syndrome. Acta Paediatrica, 99(5), 763-769
Open this publication in new window or tab >>Late effects of early growth hormone treatment in Down syndrome
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2010 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 99, no 5, p. 763-769Article in journal (Refereed) Published
Abstract [en]

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.

Keywords
Down syndrome, growth hormone, statural growth, motor function, cognitive function
National Category
Medical and Health Sciences
Research subject
Pediatrics
Identifiers
urn:nbn:se:uu:diva-106752 (URN)10.1111/j.1651-2227.2009.01679.x (DOI)000276034800028 ()20105143 (PubMedID)
Available from: 2009-06-30 Created: 2009-06-30 Last updated: 2017-12-13Bibliographically approved
Myrelid, Å., Frisk, P., Stridsberg, M., Annerén, G. & Gustafsson, J. (2010). Normal growth hormone secretion in overweight young adults with Down syndrome. Growth Hormone & IGF Research, 20(2), 174-178
Open this publication in new window or tab >>Normal growth hormone secretion in overweight young adults with Down syndrome
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2010 (English)In: Growth Hormone & IGF Research, ISSN 1096-6374, E-ISSN 1532-2238, Vol. 20, no 2, p. 174-178Article in journal (Refereed) Published
Abstract [en]

Down syndrome (DS) is associated with short stature and obesity. Adults with DS have several features in common with growth hormone (GH) deficient adult subjects. The aim of this study was to investigate GH secretion in young adults with DS and its relation to body composition as well as glucose and lipid metabolism. Ten young adults with DS (aged 24-32 years; 5 F) and ten controls matched for age and sex were examined regarding spontaneous nocturnal GH secretion and body composition. Stable isotope tracers were used to study glucose and lipid metabolism in the DS subjects. There was no difference in secretion of GH between the DS subjects and controls. The DS subjects had a higher BMI, fat mass proportion and HOMA (homeostasis model assessment) index compared with the controls. The rates of production of glucose and glycerol (reflecting lipolysis) in the DS subjects were increased (15.5+/-5.07 and 3.5+/-1.68 micromol/kg/min, respectively). The DS subjects showed normal GH secretion despite increased BMI and fat mass. The increased HOMA index and high rate of glucose production indicate peripheral and hepatic insulin resistance in adult DS subjects.

Keywords
Down syndrome, Growth hormone, Insulin-like growth factor I, Glucose production, Lipolysis, Metabolism, Body composition, Fat mass
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-123117 (URN)10.1016/j.ghir.2009.11.002 (DOI)000277823600014 ()20022776 (PubMedID)
Available from: 2010-04-23 Created: 2010-04-23 Last updated: 2017-12-12Bibliographically approved
Myrelid, Å. (2009). Down syndrome: Growth and endocrine impact. (Doctoral dissertation). Uppsala: Acta Universitatis Upsaliensis
Open this publication in new window or tab >>Down syndrome: Growth and endocrine impact
2009 (English)Doctoral thesis, comprehensive summary (Other academic)
Alternative title[sv]
Tillväxt och hormonbalans vid Downs syndrom
Abstract [en]

Down syndrome (DS) is associated with psychomotor retardation, short stature and endocrine dysfunction.

Statural growth is a well-known indicator of health. The growth in DS differs markedly from that of other children and there is a 20 cm reduction of final height as compared to target height. We developed growth charts specific for Swedish children with DS, in order to facilitate early diagnosis of concomitant diseases that influence growth. The growth charts are available for paediatricians and child health care professionals in Sweden.

The mechanism underlying the impaired growth in DS is unknown. Height is influenced by parental factors, energy intake, hormone balance and general health. In DS, genetic factors deriving from the extra chromosome 21 further affect growth. Children with DS seem to have reasonable levels of growth hormone (GH), even though GH treatment for limited periods of time improves growth velocity. Within the present project, the subjects of a previous study on early GH therapy in DS were followed up regarding late effects. We found a larger adult head circumference and better psychomotor abilities in the previously treated subjects despite a lack of effect on final height.

In adult life, GH has effects on psychological well-being and metabolism. The clinical features in adults with DS might indicate impaired GH secretion. Ten young adults with DS were studied and compared with ten healthy controls. The GH secretion in the DS subjects did not differ from that in the controls. The fat body mass percentage was increased in DS, in line with the high prevalence of overweight/obesity. The finding of an increased HOMA index as well as a high relative rate of hepatic glucose production in DS indicates reduced insulin sensitivity both peripherally and in the liver.

Thyroid dysfunction is common in DS. There is a 30-fold increase in congenital hypothyroidism, and acquired hypothyroidism has been reported to be present in up to 50% of adults with DS. We collected neonatal screening results and hospital records for the first ten years of life of 68 children with DS. The mean TSH concentration was increased neonatally, indicating marginal hypothyroidism early in life in DS. However, the neonatal TSH level did not predict development of manifest hypothyroidism later in life.

Abstract [sv]

Downs syndrom (DS) är en vanlig kromosomavvikelse. Kortvuxenhet och psykomotorisk utvecklingsstörning är kardinaltecken vid DS. Endokrina avvikelser är också frekvent förekommande.

Tillväxt är en bra indikator på barns hälsa. Nyfödda barn med DS är kortare än andra nyfödda, och skillnaden i längd ökar under barndomen. Sjukdomar som påverkar tillväxten upptäcks ofta via ett förändrat tillväxtmönster. Detta kan lätt förbises vid DS eftersom tillväxten redan är avvikande. Användning av syndromspecifika tillväxtkurvor ökar möjligheterna till diagnostik av sjukdomar som stör längdtillväxten. Vi har framställt tillväxtkurvor för barn med DS, vilka finns tillgängliga inom svensk barnsjukvård och barnhälsovård.

Längdtillväxt styrs av nedärvda faktorer från föräldrarna liksom av nutrition, hälsa och hormoner. Genetiska faktorer, kopplade till kromosom 21, kan påverka tillväxten vid DS, men tillväxtstörningens exakta bakgrund är inte känd. I vuxen ålder är personer med DS ungefär 20 cm kortare än förväntat med hänsyn till föräldralängder. Trots att barn med DS har relativt normala nivåer av tillväxthormon (STH eller GH) förbättras deras tillväxt vid STH-behandling. Inom avhandlingsarbetet följde vi upp ungdomar med DS, vilka behandlats med STH i tidig barndom. Vi kunde påvisa större huvudomfång samt förbättrad kognitiv och motorisk förmåga, trots avsaknad av effekt på slutlängden.

Tillväxthormon har i vuxen ålder effekt både på ämnesomsättning och psykologiskt välbefinnande. Vuxna individer med DS uppvisar flera tecken förenliga med STH-brist. Vi jämförde tio unga vuxna med DS med tio friska kontrollindivider avseende förmågan att insöndra STH. STH-insöndringen hos individerna med DS skiljde sig inte från den hos kontrollerna. Vid samtidig undersökning av kroppssammansättning påvisades en ökad andel kroppsfett hos individerna med DS, resultat i linje med den frekventa förekomsten av övervikt/fetma. Individerna med DS hade en förhöjd glukosproduktion, som tillsammans med ett ökat HOMA-index talar för förekomst av minskad insulinkänslighet både på levernivå och perifert.

Brist på sköldkörtelhormon är mycket vanligt vid DS och upp till hälften av vuxna med DS kan ha hypotyreos. Vi studerade 68 barn med DS avseende nivåer av tyroideastimulerande hormon (TSH) vid PKU-provtagning. Vi följde också barnens journalhandlingar från de tio första levnadsåren i syfte att undersöka om den neonatala TSH-nivån kan prediktera framtida underfunktion av sköldkörteln. Resultaten visade att barn med DS har en förhöjd nivå av TSH neonatalt, vilket indikerar en brist på sköldkörtelhormon redan i nyföddhetsperioden, men nivån förutsäger inte utveckling av manifest hypotyreos senare under barndomen.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2009. p. 67
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 465
Keywords
Down syndrome, growth, growth charts, body proportions, growth hormone, thyroid function, metabolism, body composition, cognition, motor development, Downs syndrom, tillväxt, tillväxtkurvor, kroppsproportioner, tillväxthormon, sköldkörtelfunktion, metabolism, kroppssammansättning, kognitiv förmåga, motorisk utveckling
National Category
Pediatrics
Research subject
Pediatrics
Identifiers
urn:nbn:se:uu:diva-106756 (URN)978-91-554-7565-9 (ISBN)
Public defence
2009-09-05, Auditorium Minus, Gustavianum, Uppsala, 09:15 (Swedish)
Opponent
Supervisors
Available from: 2009-08-17 Created: 2009-06-30 Last updated: 2009-08-17Bibliographically approved
Myrelid, Å., Jonsson, B., Guthenberg, C., Döbeln, von, U., Annerén, G. & Gustafsson, J. (2009). Increased neonatal thyrotropin in Down syndrome. Acta Paediatrica, 98(6), 1010-1013
Open this publication in new window or tab >>Increased neonatal thyrotropin in Down syndrome
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2009 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 98, no 6, p. 1010-1013Article in journal (Refereed) Published
Abstract [en]

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.

Keywords
children, Down syndrome, hypothyroidism, neonatal screening, TSH
National Category
Medical and Health Sciences
Research subject
Pediatrics
Identifiers
urn:nbn:se:uu:diva-106750 (URN)10.1111/j.1651-2227.2009.01245.x (DOI)000266636300018 ()19239410 (PubMedID)
Available from: 2009-06-30 Created: 2009-06-30 Last updated: 2017-12-13Bibliographically approved
Anneren, G., Myrelid, Å. & Gustafsson, J. (2004). Growth retardation in down syndrome: thyroid disorders, coeliac desease and the effect of GH therapy. In: The adult with down syndrome- a new challenge for society. Eds. JA Rondal A Rasore-Quartino and S. Soresi (pp. 61-65). : Whurr Publishers Ltd. London
Open this publication in new window or tab >>Growth retardation in down syndrome: thyroid disorders, coeliac desease and the effect of GH therapy
2004 (English)In: The adult with down syndrome- a new challenge for society. Eds. JA Rondal A Rasore-Quartino and S. Soresi, Whurr Publishers Ltd. London , 2004, p. 61-65Chapter in book (Refereed)
Place, publisher, year, edition, pages
Whurr Publishers Ltd. London, 2004
Identifiers
urn:nbn:se:uu:diva-68668 (URN)
Available from: 2005-03-07 Created: 2005-03-07
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0002-1745-9550

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