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  • 1.
    Annerén, Göran
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Hedov, Gerth
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Wester, Ulrika
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Downs syndrom: ny kunskap ställer höga krav på medicinsk vård och habilitering1999In: Socialmedicinsk Tidskrift, ISSN 0037-833X, Vol. 76, no 1, p. 71-79Article in journal (Other academic)
  • 2.
    Danfors, Torsten
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience. neurologi.
    von Knorring, Anne-Liis
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience. BUP.
    Hartvig, Per
    Hospital Pharmacy.
    Långström, Bengt
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Radiology, Oncology and Radiation Science, Section of Nuclear Medicine and PET.
    Moulder, Robert
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Radiology, Oncology and Radiation Science, Section of Nuclear Medicine and PET.
    Strömberg, Bo
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Torstenson, Richard
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Radiology, Oncology and Radiation Science, Section of Nuclear Medicine and PET.
    Wester, Ulrika
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Watanabe, Yasuyoshi
    Department of Physiology, Osaka City University Graduate School of Medicine, Japan.
    Eeg-Olofsson, Orvar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Tetrahydrobiopterin in the treatment of children with autistic disorder. A double-blind placebo-controlled crossover study2005In: Journal of Clinical Psychopharmacology, ISSN 0271-0749, E-ISSN 1533-712X, Vol. 25, no 5, p. 485-489Article in journal (Refereed)
    Abstract [en]

    Twelve children, all boys, aged 4 to 7 years, with a diagnosis of autistic disorder and low concentrations of spinal 6R-l-erythro-5,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin) were selected to participate in a double-blind, randomized, placebo-controlled, crossover study. The children received a daily dose of 3 mg tetrahydrobiopterin per kilogram during 6 months alternating with placebo. Treatment-induced effects were assessed with the Childhood Autism Rating Scale every third month. The results showed small nonsignificant changes in the total scores of Childhood Autism Rating Scale after 3- and 6-month treatment. Post hoc analysis looking at the 3 core symptoms of autism, that is, social interaction, communication, and stereotyped behaviors, revealed a significant improvement of the social interaction score after 6 months of active treatment. In addition, a high positive correlation was found between response of the social interaction score and IQ. The results indicate a possible effect of tetrahydrobiopterin treatment.

  • 3.
    Englund, Hillevi
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences.
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Gustafsson, Jan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Wester, Ulrika
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Wiltfang, Jens
    Lannfelt, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences.
    Blennow, Kaj
    Höglund, Kina
    Increase in beta-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome2007In: Dementia and Geriatric Cognitive Disorders, ISSN 1420-8008, E-ISSN 1421-9824, Vol. 24, no 5, p. 369-374Article in journal (Refereed)
    Abstract [en]

    Background: Individuals with Down syndrome (DS) invariably develop Alzheimer's disease (AD) during their life span. It is therefore of importance to study young DS patients when trying to elucidate early events in AD pathogenesis. Aim: To investigate how levels of different amyloid- (A) peptides, as well as tau and phosphorylated tau, in cerebrospinal fluid (CSF) from children with DS change over time. The first CSF sample was taken at 8 months and the following two samples at 20-40 and 54 months of age. Results: Individual levels of the A peptides, as well as total A levels in CSF increased over time when measured with Western blot. Tau in CSF decreased whereas there was no change in levels of phosphorylated tau over time. Conclusion: The increasing levels of A in CSF during early childhood of DS patients observed in this study are probably due to the trisomy of the A precursor APP, which leads to an overproduction of A. Despite the increased CSF concentrations of A, there were no signs of an AD-indicating tau pattern in CSF, since the levels of total tau decreased and phosphorylated tau remained unchanged. This observation further strengthens the theory of A pathology preceding tau pathology in AD.

  • 4.
    Wester Oxelgren, Ulrika
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Down Syndrome: Current Perspectives2016In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 105, no 7, p. 855-Article, book review (Other academic)
  • 5.
    Wester Oxelgren, Ulrika
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Intellectual Disability and coexisting Autism and ADHD in Down syndrome - a population-based study2019Doctoral thesis, comprehensive summary (Other academic)
    Abstract [en]

    The thesis investigated associated neurodevelopmental/neuropsychiatric aspects in a population-based cohort of 60 children and adolescents (5–17 years) with Down syndrome (DS).

    Forty-one subjects were comprehensively assessed by a clinical research team; 17 (41%) and 14 (34%) met DSM criteria for autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), respectively.

    Forty-nine subjects had a formal cognitive test and 11 had clinical assessments due to profound intellectual disability (ID). Mild ID (IQ 50–70) was found in 9% of the teenagers (13–18 years) and in 35% of the younger (5–12 years) children. Corresponding figures for severe ID (IQ <50) were 91% and 65%, respectively. The ID was more severe in individuals with coexisting ASD.

    Levels and profiles of autistic symptoms, according to ADOS Module-1, were analysed. Children with DS and ASD, with different levels of ID, had significantly more symptoms within all autism domains, than those with DS only – a difference which remained when subgroups with severe ID were compared. A considerable proportion of subjects with DS had ASD in addition to ID, but there was a group with DS and severe ID without ASD. The autism profiles of children with DS and ASD were similar to those of children with idiopathic autism. The commonly used investigation tools used to diagnose ASD in the study, seemed to be appropriate in this patient group.

    An intervention programme, including education for parents and school staff, adapted to the specific needs of schoolchildren with DS and ASD was performed and evaluated. Although the studied group comprised older children and adolescents, most of whom with severe or profound ID, they could achieve goals and skills previously not managed. In addition, the parents’ views on the intervention were encouraging.

    In conclusion, there is a need of awareness of the increased prevalence of ASD and ADHD in children with DS. We suggest that screening for ASD and ADHD should be implemented for children with DS at the age of 3–5 years and at early school years, respectively. We also suggest that children with DS should be re-evaluated regarding level of ID before entering secondary school.

    List of papers
    1. Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study
    Open this publication in new window or tab >>Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study
    Show others...
    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
    2. More severe intellectual disability found in teenagers compared to younger children with Down syndrome.
    Open this publication in new window or tab >>More severe intellectual disability found in teenagers compared to younger children with Down syndrome.
    Show others...
    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
    3. Autism needs to be considered in children with Down syndrome
    Open this publication in new window or tab >>Autism needs to be considered in children with Down syndrome
    Show others...
    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
    4. An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study
    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
    Show others...
    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
  • 6.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Myrelid, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, 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 University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    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 study2017In: Developmental Medicine & Child Neurology, ISSN 0012-1622, E-ISSN 1469-8749, Vol. 59, no 3, p. 276-283Article in journal (Refereed)
    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.

  • 7.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Myrelid, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Westerlund, Joakim
    Gustafsson, Jan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Fernell, Elisabeth
    More severe intellectual disability found in teenagers compared to younger children with Down syndrome.2019In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, no 5, p. 961-966Article in journal (Refereed)
    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.

  • 8.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Westerlund, Joakim
    Institutionen för psykologi, Stockholms universitet.
    Myrelid, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Paediatric Inflammation, Metabolism and Child Health Research.
    Annerén, Göran
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Johansson, Lotta
    Habiliteringen Uppsala län.
    Åberg, Marie
    Habiliteringen Uppsala län.
    Gustafsson, Jan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Paediatric Inflammation, Metabolism and Child Health Research.
    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 study2019In: Neuropsychiatric Disease and Treatment, ISSN 1176-6328, E-ISSN 1178-2021, Vol. 15, p. 2049-2056Article in journal (Refereed)
    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.

  • 9.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Åberg, Marie
    Kungsgardet Ctr, Dept Hlth & Habilitat, Uppsala, Sweden.
    Myrelid, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Paediatric Inflammation, Metabolism and Child Health Research.
    Annerén, Göran
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Westerlund, Joakim
    Stockholm Univ, Dept Psychol, Stockholm, Sweden;Gothenburg Univ, Gillberg Neuropsychiat Ctr, Dept Neurosci & Physiol, Gothenburg, Sweden.
    Gustafsson, Jan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Paediatric Inflammation, Metabolism and Child Health Research. 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 Syndrome2019In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, no 11, p. 2019-2026Article in journal (Refereed)
    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.

  • 10.
    Wester Oxelgren, Ulrika
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
    Åberg, Marie
    Kungsgardet Ctr, Dept Hlth & Habilitat, Uppsala, Sweden.
    Myrelid, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Paediatric Inflammation, Metabolism and Child Health Research.
    Annerén, Göran
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, 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 University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Paediatric Inflammation, Metabolism and Child Health Research.
    Fernell, Elisabeth
    Gothenburg Univ, Gillberg Neuropsychiat Ctr, Dept Neurosci & Physiol, Gothenburg, Sweden.
    Autism needs to be considered in children with Down syndrome2019In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, no 11, p. 2019-2026Article in journal (Refereed)
    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.

  • 11. Wester, Ulrika
    Analgesic effect of lidocaine ointment on intact skin in neonates1993In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 82, no 9, p. 791-Article in journal (Refereed)
  • 12.
    Wester, Ulrika
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Bondeson, Marie-Louise
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Edeby, Christina
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation2006In: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 140A, no 11, p. 1164-1171Article in journal (Refereed)
    Abstract [en]

    The deletion 18p syndrome is one of the most common chromosome abnormalities. The medical problems are mental and postnatal growth retardation, and sometimes malformations of the heart and brain. The individuals have some typical features, which might be easy to overlook and which are: ptosis, strabismus, hypertelorism, broad flat nose, micrognathia, big and low set ears. The aims of present study were to clinically and molecularly characterize the syndrome further in seven subjects with de novo 18p deletions and to perform genotype–phenotype correlation. All seven subjects had terminal deletions and no interstitial deletion was observed with subtelomeric FISH analyses. To define the extent of the 18p deletions and the parental origin of the deletion microsatellite- and FISH analyses were performed on genomic DNA and on lymphoblastoid cell lines of the study participants. Totally 19 chromosomes, 18 specific polymorphic microsatellite markers, and 5 BAC clones were used. The results revealed that the deletions were located in the centromeric region at 18p11.1 in four of the seven subjects. In the remaining three the breakpoints were located distal to 18p11.1 (18p11.21-p11.22). Four of the individuals had a paternal and three a maternal origin of the deletion. Genotype–phenotype correlation of the seven subjects suggests a correlation between the extent of the deleted region and the mental development. All the four children with a deletion in the centromeric region at 18p11.1 had a mental retardation (MR). Two of the three children with a more distal breakpoint (distal 18p11.21) had a normal mental development and one had a border-line mental retardation. There might be a critical region for the mental retardation located between 18p11.1 and 18p11.21. The children with a breakpoint at 18p11.1 had all a broad face, which was observed in only one of those with a more distal breakpoint, otherwise no genotype–phenotype correlation of the features was observed.

  • 13.
    Wester, Ulrika
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Brandberg, Göran
    Larsson, M
    Lönnerholm, Torsten
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Radiology, Oncology and Radiation Science, Radiology.
    Annerén, Göran
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy2002In: Prenatal Diagnosis, ISSN 0197-3851, E-ISSN 1097-0223, Vol. 22, no 8, p. 663-668Article in journal (Refereed)
    Abstract [en]

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

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