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  • 1. Anneren, G
    et al.
    Myrelid, Åsa
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Gustafsson, Jan
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Growth retardation in down syndrome: thyroid disorders, coeliac desease and the effect of GH therapy2004Inngår i: The adult with down syndrome- a new challenge for society. Eds. JA Rondal A Rasore-Quartino and S. Soresi, Whurr Publishers Ltd. London , 2004, s. 61-65Kapittel i bok, del av antologi (Fagfellevurdert)
  • 2.
    Myrelid, Åsa
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Down syndrome: Growth and endocrine impact2009Doktoravhandling, med artikler (Annet vitenskapelig)
    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.

    Delarbeid
    1. Late effects of early growth hormone treatment in Down syndrome
    Åpne denne publikasjonen i ny fane eller vindu >>Late effects of early growth hormone treatment in Down syndrome
    Vise andre…
    2010 (engelsk)Inngår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 99, nr 5, s. 763-769Artikkel i tidsskrift (Fagfellevurdert) 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.

    Emneord
    Down syndrome, growth hormone, statural growth, motor function, cognitive function
    HSV kategori
    Forskningsprogram
    Pediatrik
    Identifikatorer
    urn:nbn:se:uu:diva-106752 (URN)10.1111/j.1651-2227.2009.01679.x (DOI)000276034800028 ()20105143 (PubMedID)
    Tilgjengelig fra: 2009-06-30 Laget: 2009-06-30 Sist oppdatert: 2017-12-13bibliografisk kontrollert
    2. Normal growth hormone secretion in young adults with Down syndrome
    Åpne denne publikasjonen i ny fane eller vindu >>Normal growth hormone secretion in young adults with Down syndrome
    Vise andre…
    (engelsk)Manuskript (Annet vitenskapelig)
    Emneord
    Down syndrome, growth hormone, insulin-like growth factor I, glucose production, lipolysis, metabolism, body composition, fat mass
    HSV kategori
    Forskningsprogram
    Pediatrik
    Identifikatorer
    urn:nbn:se:uu:diva-106754 (URN)
    Tilgjengelig fra: 2009-06-30 Laget: 2009-06-30 Sist oppdatert: 2017-01-25bibliografisk kontrollert
    3. Growth charts for Down's syndrome from birth to 18 years of age
    Åpne denne publikasjonen i ny fane eller vindu >>Growth charts for Down's syndrome from birth to 18 years of age
    2002 (engelsk)Inngår i: Archives of Disease in Childhood, Vol. 87, s. 97-Artikkel i tidsskrift (Fagfellevurdert) Published
    Identifikatorer
    urn:nbn:se:uu:diva-62930 (URN)
    Tilgjengelig fra: 2008-10-17 Laget: 2008-10-17 Sist oppdatert: 2011-01-13
    4. Increased neonatal thyrotropin in Down syndrome
    Åpne denne publikasjonen i ny fane eller vindu >>Increased neonatal thyrotropin in Down syndrome
    Vise andre…
    2009 (engelsk)Inngår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 98, nr 6, s. 1010-1013Artikkel i tidsskrift (Fagfellevurdert) 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.

    Emneord
    children, Down syndrome, hypothyroidism, neonatal screening, TSH
    HSV kategori
    Forskningsprogram
    Pediatrik
    Identifikatorer
    urn:nbn:se:uu:diva-106750 (URN)10.1111/j.1651-2227.2009.01245.x (DOI)000266636300018 ()19239410 (PubMedID)
    Tilgjengelig fra: 2009-06-30 Laget: 2009-06-30 Sist oppdatert: 2017-12-13bibliografisk kontrollert
  • 3.
    Myrelid, Åsa
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Bergman, Sara
    Child and Adolescent Habilitation Centre, County Council of Uppsala, Uppsala, Sweden.
    Elfvik Strömberg, Maria
    Child and Adolescent Habilitation Centre, County Council of Uppsala, Uppsala, Sweden.
    Jonsson, Björn
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Nyberg, Fred
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Farmaceutiska fakulteten, Institutionen för farmaceutisk biovetenskap.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Annerén, Göran
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Late effects of early growth hormone treatment in Down syndrome2010Inngår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 99, nr 5, s. 763-769Artikkel i tidsskrift (Fagfellevurdert)
    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.

  • 4.
    Myrelid, Åsa
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Frisk, Per
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Stridsberg, Mats
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Biokemisk endokrinologi.
    Annerén, Göran
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Normal growth hormone secretion in overweight young adults with Down syndrome2010Inngår i: Growth Hormone & IGF Research, ISSN 1096-6374, E-ISSN 1532-2238, Vol. 20, nr 2, s. 174-178Artikkel i tidsskrift (Fagfellevurdert)
    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.

  • 5.
    Myrelid, Åsa
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Frisk, Per
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Stridsberg, Mats
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Klinisk kemi.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Annerén, Göran
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Normal growth hormone secretion in young adults with Down syndromeManuskript (Annet vitenskapelig)
  • 6.
    Myrelid, Åsa
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Jonsson, Björn
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Guthenberg, Claes
    Centrum för medfödda metabola sjukdomar, Karolinska universitetssjukhuset Huddinge, Stockholm.
    Döbeln, von, Ulrika
    Centrum för medfödda metabola sjukdomar, Karolinska universitetssjukhuset Huddinge, Stockholm.
    Annerén, Göran
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Increased neonatal thyrotropin in Down syndrome2009Inngår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 98, nr 6, s. 1010-1013Artikkel i tidsskrift (Fagfellevurdert)
    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.

  • 7.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Myrelid, Åsa
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Annerén, Göran
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Ekstam, Bodil
    Kungsgardet Ctr, Dept Hlth & Rehabil, Uppsala, Sweden..
    Göransson, Cathrine
    Kungsgardet Ctr, Dept Hlth & Rehabil, Uppsala, Sweden..
    Holmbom, Agneta
    Kungsgardet Ctr, Dept Hlth & Rehabil, Uppsala, Sweden..
    Isaksson, Anne
    Kungsgardet Ctr, Dept Hlth & Rehabil, Uppsala, Sweden..
    Åberg, Marie
    Kungsgardet Ctr, Dept Hlth & Rehabil, Uppsala, Sweden..
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Fernell, Elisabeth
    Gothenburg Univ, Gillberg Neuropsychiatry Ctr, Dept Neurosci & Physiol, Gothenburg, Sweden..
    Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study2017Inngår i: Developmental Medicine & Child Neurology, ISSN 0012-1622, E-ISSN 1469-8749, Vol. 59, nr 3, s. 276-283Artikkel i tidsskrift (Fagfellevurdert)
    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.

  • 8.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Myrelid, Åsa
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Annerén, Göran
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Westerlund, Joakim
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Fernell, Elisabeth
    More severe intellectual disability found in teenagers compared to younger children with Down syndrome.2019Inngår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, nr 5, s. 961-966Artikkel i tidsskrift (Fagfellevurdert)
    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.

  • 9.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Westerlund, Joakim
    Institutionen för psykologi, Stockholms universitet.
    Myrelid, Åsa
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Pediatrisk inflammations- och metabolismforskning samt barnhälsa.
    Annerén, Göran
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Johansson, Lotta
    Habiliteringen Uppsala län.
    Åberg, Marie
    Habiliteringen Uppsala län.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Pediatrisk inflammations- och metabolismforskning samt barnhälsa.
    Frenell, Elisabeth
    Gillberg centrum, Institutionen för neurovetenskap och psykologi, Göteborgs universitet.
    An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study2019Inngår i: Neuropsychiatric Disease and Treatment, ISSN 1176-6328, E-ISSN 1178-2021, Vol. 15, s. 2049-2056Artikkel i tidsskrift (Fagfellevurdert)
    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.

  • 10.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Åberg, Marie
    Kungsgardet Ctr, Dept Hlth & Habilitat, Uppsala, Sweden.
    Myrelid, Åsa
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Pediatrisk inflammations- och metabolismforskning samt barnhälsa.
    Annerén, Göran
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi.
    Westerlund, Joakim
    Stockholm Univ, Dept Psychol, Stockholm, Sweden;Gothenburg Univ, Gillberg Neuropsychiat Ctr, Dept Neurosci & Physiol, Gothenburg, Sweden.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Pediatrisk inflammations- och metabolismforskning samt barnhälsa. Uppsala Univ, Dept Womens & Childrens Hlth, S-75185 Uppsala, Sweden.
    Fernell, Elisabeth
    Gothenburg Univ, Gillberg Neuropsychiat Ctr, Dept Neurosci & Physiol, Gothenburg, Sweden.
    Autism needs to be considered in children with Down Syndrome2019Inngår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, nr 11, s. 2019-2026Artikkel i tidsskrift (Fagfellevurdert)
    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.

  • 11.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Barnneurologi/Barnonkologi.
    Åberg, Marie
    Kungsgardet Ctr, Dept Hlth & Habilitat, Uppsala, Sweden.
    Myrelid, Åsa
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Pediatrisk inflammations- och metabolismforskning samt barnhälsa.
    Annerén, Göran
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Westerlund, Joakim
    Stockholm Univ, Dept Psychol, Stockholm, Sweden; Gothenburg Univ, Gillberg Neuropsychiat Ctr, Dept Neurosci & Physiol, Gothenburg, Sweden.
    Gustafsson, Jan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Forskargrupper (Inst. för kvinnor och barns hälsa), Pediatrisk inflammations- och metabolismforskning samt barnhälsa.
    Fernell, Elisabeth
    Gothenburg Univ, Gillberg Neuropsychiat Ctr, Dept Neurosci & Physiol, Gothenburg, Sweden.
    Autism needs to be considered in children with Down syndrome2019Inngår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, nr 11, s. 2019-2026Artikkel i tidsskrift (Fagfellevurdert)
    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.

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