Maria Råstam | Lunds University (original) (raw)
Papers by Maria Råstam
De Gruyter eBooks, Dec 31, 1995
Background: Individuals with autism spectrum disorders (ASDs) often display symptoms from other d... more Background: Individuals with autism spectrum disorders (ASDs) often display symptoms from other diagnostic categories. Studies of clinical and psychosocial outcome in adult patients with ASDs without concomitant intellectual disability are few. The objective of this paper is to describe the clinical psychiatric presentation and important outcome measures of a large group of normalintelligence adult patients with ASDs. Methods: Autistic symptomatology according to the DSM-IV-criteria and the Gillberg & Gillberg research criteria, patterns of comorbid psychopathology and psychosocial outcome were assessed in 122 consecutively referred adults with normal intelligence ASDs. The subjects consisted of 5 patients with autistic disorder (AD), 67 with Asperger's disorder (AS) and 50 with pervasive developmental disorder not otherwise specified (PDD NOS). This study group consists of subjects pooled from two studies with highly similar protocols, all seen on an outpatient basis by one of three clinicians. Results: Core autistic symptoms were highly prevalent in all ASD subgroups. Though AD subjects had the most pervasive problems, restrictions in non-verbal communication were common across all three subgroups and, contrary to current DSM criteria, so were verbal communication deficits. Lifetime psychiatric axis I comorbidity was very common, most notably mood and anxiety disorders, but also ADHD and psychotic disorders. The frequency of these diagnoses did not differ between the ASD subgroups or between males and females. Antisocial personality disorder and
British Journal of Psychiatry, May 22, 2019
Journal of Youth and Adolescence, Aug 1, 1996
Fifty-one adolescent onset anorexia nervosa (AN) cases recruited after community screening were c... more Fifty-one adolescent onset anorexia nervosa (AN) cases recruited after community screening were compared with fifty-one age-, sex- and schoolmatched cases with regard to comorbidity and personality disorders at age 21 years. All 102 cases had originally been examined at a mean age of 16 years. Outcome according to the Morgan-Russell scales was fairly similar to that reported in recent clinic-based
British Journal of Psychiatry, Nov 1, 1989
The total population of 15-year-olds in Göteborg, Sweden, were screened in 1985 for anorexia nerv... more The total population of 15-year-olds in Göteborg, Sweden, were screened in 1985 for anorexia nervosa using brief questionnaires, growth charts and individual school nurse reports. An accumulated frequency of anorexia of 0.84% for girls up to and including 15 years of age was obtained, with 85% of the cases fulfilling DSM–III–R criteria. Boys were affected just over one-tenth as often as girls. The frequency of anorexia nervosa appeared to be much higher in private than in comprehensive schools. The peak age of onset seemed to be 14 years.
Journal of the American Academy of Child and Adolescent Psychiatry, Jun 1, 1994
Objective: Controlled study of intermediate term outcome of representative cases with adolescent-... more Objective: Controlled study of intermediate term outcome of representative cases with adolescent-onset anorexia nervosa. Method: A group of 51 cases with anorexia nervosa with a mean age of reported onset of 14.3 years (including a total population of cases from one birth cohort) were compared with a sex-, age-, and school-matched group of 51 comparison subjects on various measures of outcome at a mean age of 21.0 years (6.7 years after reported onset and 4.9 years after the original diagnostic study). There was no attrition. This paper reports on results obtained using the Morgan-Russell scales. Results: Forty-seven percent of the anorexia nervosa cases reported that they were recovered. In the unrecovered group all aspects of outcome were worse in the anorexia nervosa than in the comparison group. Differences between the two groups were particularly pronounced with regard to aspects of social relationships. Conclusions: Outcome was fairly similar to that reported in recent clinic-based samples. Poor outcome was associated with the presence of empathy deficits (problems understanding about other people's perspectives and difficulties interacting reciprocally). There is a need to find ways of subgrouping anorexia nervosa cases at onset. The subgroup with empathy deficits warrants more intensive study in future research and clinical practice.
Journal of eating disorders, Jan 9, 2022
Background: Long-term consequences of comorbid autism spectrum disorder (ASD) in individuals with... more Background: Long-term consequences of comorbid autism spectrum disorder (ASD) in individuals with anorexia nervosa (AN) are inadequately investigated. Methods: In the 1980s, 51 adolescent-onset AN cases (AN group) and 51 matched controls (COMP group) were recruited from the community. They have been examined on five occasions. The four last assessments included the Morgan-Russell Outcome Assessment Schedule (MROAS) to assess eating disorder outcomes (weight, dieting, menstruation), and related problems including psychiatric, psychosexual and socioeconomic state. In the present study, at age 44, when 30 years had elapsed, MROAS data were compared with previous results. At age 16, 21, 24 and 32 years, all individuals had been assessed regarding ASD. At the 30-year follow-up, the impact of the ASD on the MROAS data was analysed. Results: In the AN group, all core anorectic symptoms (weight, dieting, menstruation) were on a par with the COMP group at the 30-year follow-up, but the positive outcomes were limited to those who had never had an ASD diagnosis. Psychiatric state was significantly worse in the AN group, particularly in the subgroup who had an ASD diagnosis assigned. The AN group-again particularly those with ASD-had a more negative attitude to sexual matters than the COMP group. The AN group had worse outcomes than the COMP group for 'personal contacts' , 'social contacts, ' and 'employment record' at the 30-year follow-up and the outcomes were worse the more often an ASD diagnosis had been assigned. Limitations: Rare data collection points throughout 30 years (only 5 assessments). ASD was assessed in the first four studies but was not assessed again at the 30-year follow-up. Conclusions: Mental health, psychosexual, and socioeconomic status were compromised up to 30 years after AN onset. Coexisting ASD contributed to the poor outcome. Core anorectic symptoms had "normalised" three decades after AN onset. Plain English summary: Some individuals with anorexia nervosa (AN) also suffer from autism. In this study we have investigated outcome of AN 30 years after the onset of AN and whether the presence of autism affects the outcome. Since the 1980s we have followed 51 individuals with teenage-onset AN and 51 healthy controls. They have been examined on five occasions, and an instrument that measures symptoms of AN (weight, dieting, body image), psychiatric symptoms, ability to work, and relationships with partner, family, and friends has been used to assess outcome.
We would like to express our gratitude for your constructive critics and helpful input for the im... more We would like to express our gratitude for your constructive critics and helpful input for the improvement of this manuscript, which has now undergone a point-by-point major revision in response to the feedback from reviewers and editors. Throughout this cover letter the responses to specific comments are in italics, and crucial revisions in the text are highlighted in grey. Please note that the references to pages and lines in the reviews are according to previous submission and may possibly not coincide with the pages and lines of the re-submission. Yours sincerely, Tomas Larson EDITORS REQUEST: Please reword your consent statement on page 8 to clarify that all children and parents in CATSS gave informed consent.
European Child & Adolescent Psychiatry, Jul 1, 2004
It is only recently that &amp... more It is only recently that "comorbidity" in ADHD has come to the forefront as one of the most important aspects of the disorder. It is agreed that, often, these problems are at least as important as ADHD in contributing to the longer term outcome in the individual child. To provide the reader with basic information about clinics and treatment of "comorbidity" in ADHD. Review of the empirically based literature. ADHD exists in a surprisingly high frequency together with a broad range of child neuropsychiatric disorders. This is accompanied with many still unresolved treatment problems. It would not be appropriate to develop ADHD-services where clinicians would only have expertise in ADHD as such. Anyone working with children, adolescents and adults with ADHD would need to have training in general neuropsychiatry. Further research in this field is urgently needed.
Sleep wake cycles are frequently disturbed in patients with Attention Deficit and Hyperactivity D... more Sleep wake cycles are frequently disturbed in patients with Attention Deficit and Hyperactivity Disorders. We hypothesized that the origin of the sleep problems may be the consequence of an abnormal circadian clock setting regulated by the melatonin pathway. Here, we sequenced all the genes of the melatonin pathway AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 in 328 individuals from Sweden including 108 patients with ADHD and 220 from the general population. Non-synonymous mutations were identified in all genes at a similar frequency in patients with ADHD and in controls. Among the functional variations, a splice site mutation (IVS5+2T>C) in ASMT and one stop mutation (Y170X) in MTNR1A were only detected in patients with ADHD. Biochemical analyses indicated that these mutations abolish the activity of ASMT and MTNR1A. We also identified clusters of SNPs within MTNR1B showing significant difference in the allelic frequency between ADHD patients and control (maximum signal at rs10830961 ...
Autism Research, 2019
Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. ... more Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin‐3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin‐3 R451C missense mutation (NL3R451C). Assessing in vivo gut dysfunction, we report faster small intestinal transit in NL3R451C compared to wild‐type mice. Using an ex vivo colonic motility assay, we show increased sensitivity to GABAA receptor modulation in NL3R451C mice, a well‐established Central Nervous System (CNS) feature associated with this mutation. We fur...
Autism research : official journal of the International Society for Autism Research, 2017
Community-based studies have consistently shown a sex ratio heavily skewed towards males in autis... more Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Gen...
The International journal of eating disorders, Jan 22, 2017
A finding consistent with the transdiagnostic approach to eating disorders is that about half of ... more A finding consistent with the transdiagnostic approach to eating disorders is that about half of those with restricting anorexia nervosa (AN) eventually undergo a transition to the binge/purge (BP) subtype or to bulimia nervosa. Given evidence that individuals with bulimic symptoms exhibit elevated weights premorbidly, we tested the hypothesis that among those with AN, highest premorbid BMI would predict which individuals with AN would develop AN-BP. The current study used longitudinal data from a community sample of adolescents with AN in Sweden. Premorbid weights were obtained from growth charts, and participants were re-assessed at 6, 10, and 18 years after first presentation with AN. A greater highest premorbid BMI z score predicted a greater likelihood of developing binge/purge symptoms over 18 years. Among individuals who develop an eating disorder, premorbid BMI may be implicated in the type and course of the eating disorder that emerges.
Molecular Psychiatry, 2016
Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite ou... more Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P = 0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P = 0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6 W923X was transmitted by a mother to her two sons with ASD and one variant CNTN6 P770L was found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD.
Molecular Psychiatry, 2015
Checklistan kan fyllas i av patienten själv (över 15 år), men yngre barn bör få checklistan upplä... more Checklistan kan fyllas i av patienten själv (över 15 år), men yngre barn bör få checklistan uppläst. Frågorna på sid 4 bör värderas av klinikern i en intervju. "Tvångstankar" och "Tvångshandlingar" kan förklaras på följande vis: "Tvångstankar" är störande tankar, idéer, en känsla, fantasier, inre bilder eller impulser som återkommer i dina tankar fastän du skulle vilja slippa dem. Eftersom tvångstankarna leder till obehag brukar man göra tvångshandlingar för att minska obehaget.
Books of Abstracts of the 16th World Congress of the International Association for Child and Adolescent Psychiatry and Allied Professions (IACAPAP), 2004
Twin Research and Human Genetics, 2011
The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing longitudinal twin study targe... more The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing longitudinal twin study targeting all twins born in Sweden since July 1, 1992. Since 2004, parents of twins are interviewed regarding the children's somatic and mental health and social environment in connection with their 9th or 12th birthdays (CATSS-9/12). By January 2010, 8,610 parental interviews concerning 17,220 twins had been completed, with an overall response rate of 80%. At age 15 (CATSS-15) and 18 (CATSS-18), twins and parents complete questionnaires that, in addition to assessments of somatic and mental health, include measures of personality development and psychosocial adaptation. Twin pairs in CATSS-9/12 with one or both twins screening positive for autism spectrum disorders, attention deficit/hyperactivity disorder, tic disorders, developmental coordination disorder, learning disorders, oppositional defiant disorder, conduct disorder, obsessive–compulsive disorder, and/or eating problems have bee...
Research in Developmental Disabilities, 2010
As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Mö bius se... more As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Mö bius sequence (Mö bius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Mö bius/ CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.
De Gruyter eBooks, Dec 31, 1995
Background: Individuals with autism spectrum disorders (ASDs) often display symptoms from other d... more Background: Individuals with autism spectrum disorders (ASDs) often display symptoms from other diagnostic categories. Studies of clinical and psychosocial outcome in adult patients with ASDs without concomitant intellectual disability are few. The objective of this paper is to describe the clinical psychiatric presentation and important outcome measures of a large group of normalintelligence adult patients with ASDs. Methods: Autistic symptomatology according to the DSM-IV-criteria and the Gillberg & Gillberg research criteria, patterns of comorbid psychopathology and psychosocial outcome were assessed in 122 consecutively referred adults with normal intelligence ASDs. The subjects consisted of 5 patients with autistic disorder (AD), 67 with Asperger's disorder (AS) and 50 with pervasive developmental disorder not otherwise specified (PDD NOS). This study group consists of subjects pooled from two studies with highly similar protocols, all seen on an outpatient basis by one of three clinicians. Results: Core autistic symptoms were highly prevalent in all ASD subgroups. Though AD subjects had the most pervasive problems, restrictions in non-verbal communication were common across all three subgroups and, contrary to current DSM criteria, so were verbal communication deficits. Lifetime psychiatric axis I comorbidity was very common, most notably mood and anxiety disorders, but also ADHD and psychotic disorders. The frequency of these diagnoses did not differ between the ASD subgroups or between males and females. Antisocial personality disorder and
British Journal of Psychiatry, May 22, 2019
Journal of Youth and Adolescence, Aug 1, 1996
Fifty-one adolescent onset anorexia nervosa (AN) cases recruited after community screening were c... more Fifty-one adolescent onset anorexia nervosa (AN) cases recruited after community screening were compared with fifty-one age-, sex- and schoolmatched cases with regard to comorbidity and personality disorders at age 21 years. All 102 cases had originally been examined at a mean age of 16 years. Outcome according to the Morgan-Russell scales was fairly similar to that reported in recent clinic-based
British Journal of Psychiatry, Nov 1, 1989
The total population of 15-year-olds in Göteborg, Sweden, were screened in 1985 for anorexia nerv... more The total population of 15-year-olds in Göteborg, Sweden, were screened in 1985 for anorexia nervosa using brief questionnaires, growth charts and individual school nurse reports. An accumulated frequency of anorexia of 0.84% for girls up to and including 15 years of age was obtained, with 85% of the cases fulfilling DSM–III–R criteria. Boys were affected just over one-tenth as often as girls. The frequency of anorexia nervosa appeared to be much higher in private than in comprehensive schools. The peak age of onset seemed to be 14 years.
Journal of the American Academy of Child and Adolescent Psychiatry, Jun 1, 1994
Objective: Controlled study of intermediate term outcome of representative cases with adolescent-... more Objective: Controlled study of intermediate term outcome of representative cases with adolescent-onset anorexia nervosa. Method: A group of 51 cases with anorexia nervosa with a mean age of reported onset of 14.3 years (including a total population of cases from one birth cohort) were compared with a sex-, age-, and school-matched group of 51 comparison subjects on various measures of outcome at a mean age of 21.0 years (6.7 years after reported onset and 4.9 years after the original diagnostic study). There was no attrition. This paper reports on results obtained using the Morgan-Russell scales. Results: Forty-seven percent of the anorexia nervosa cases reported that they were recovered. In the unrecovered group all aspects of outcome were worse in the anorexia nervosa than in the comparison group. Differences between the two groups were particularly pronounced with regard to aspects of social relationships. Conclusions: Outcome was fairly similar to that reported in recent clinic-based samples. Poor outcome was associated with the presence of empathy deficits (problems understanding about other people's perspectives and difficulties interacting reciprocally). There is a need to find ways of subgrouping anorexia nervosa cases at onset. The subgroup with empathy deficits warrants more intensive study in future research and clinical practice.
Journal of eating disorders, Jan 9, 2022
Background: Long-term consequences of comorbid autism spectrum disorder (ASD) in individuals with... more Background: Long-term consequences of comorbid autism spectrum disorder (ASD) in individuals with anorexia nervosa (AN) are inadequately investigated. Methods: In the 1980s, 51 adolescent-onset AN cases (AN group) and 51 matched controls (COMP group) were recruited from the community. They have been examined on five occasions. The four last assessments included the Morgan-Russell Outcome Assessment Schedule (MROAS) to assess eating disorder outcomes (weight, dieting, menstruation), and related problems including psychiatric, psychosexual and socioeconomic state. In the present study, at age 44, when 30 years had elapsed, MROAS data were compared with previous results. At age 16, 21, 24 and 32 years, all individuals had been assessed regarding ASD. At the 30-year follow-up, the impact of the ASD on the MROAS data was analysed. Results: In the AN group, all core anorectic symptoms (weight, dieting, menstruation) were on a par with the COMP group at the 30-year follow-up, but the positive outcomes were limited to those who had never had an ASD diagnosis. Psychiatric state was significantly worse in the AN group, particularly in the subgroup who had an ASD diagnosis assigned. The AN group-again particularly those with ASD-had a more negative attitude to sexual matters than the COMP group. The AN group had worse outcomes than the COMP group for 'personal contacts' , 'social contacts, ' and 'employment record' at the 30-year follow-up and the outcomes were worse the more often an ASD diagnosis had been assigned. Limitations: Rare data collection points throughout 30 years (only 5 assessments). ASD was assessed in the first four studies but was not assessed again at the 30-year follow-up. Conclusions: Mental health, psychosexual, and socioeconomic status were compromised up to 30 years after AN onset. Coexisting ASD contributed to the poor outcome. Core anorectic symptoms had "normalised" three decades after AN onset. Plain English summary: Some individuals with anorexia nervosa (AN) also suffer from autism. In this study we have investigated outcome of AN 30 years after the onset of AN and whether the presence of autism affects the outcome. Since the 1980s we have followed 51 individuals with teenage-onset AN and 51 healthy controls. They have been examined on five occasions, and an instrument that measures symptoms of AN (weight, dieting, body image), psychiatric symptoms, ability to work, and relationships with partner, family, and friends has been used to assess outcome.
We would like to express our gratitude for your constructive critics and helpful input for the im... more We would like to express our gratitude for your constructive critics and helpful input for the improvement of this manuscript, which has now undergone a point-by-point major revision in response to the feedback from reviewers and editors. Throughout this cover letter the responses to specific comments are in italics, and crucial revisions in the text are highlighted in grey. Please note that the references to pages and lines in the reviews are according to previous submission and may possibly not coincide with the pages and lines of the re-submission. Yours sincerely, Tomas Larson EDITORS REQUEST: Please reword your consent statement on page 8 to clarify that all children and parents in CATSS gave informed consent.
European Child & Adolescent Psychiatry, Jul 1, 2004
It is only recently that &amp... more It is only recently that "comorbidity" in ADHD has come to the forefront as one of the most important aspects of the disorder. It is agreed that, often, these problems are at least as important as ADHD in contributing to the longer term outcome in the individual child. To provide the reader with basic information about clinics and treatment of "comorbidity" in ADHD. Review of the empirically based literature. ADHD exists in a surprisingly high frequency together with a broad range of child neuropsychiatric disorders. This is accompanied with many still unresolved treatment problems. It would not be appropriate to develop ADHD-services where clinicians would only have expertise in ADHD as such. Anyone working with children, adolescents and adults with ADHD would need to have training in general neuropsychiatry. Further research in this field is urgently needed.
Sleep wake cycles are frequently disturbed in patients with Attention Deficit and Hyperactivity D... more Sleep wake cycles are frequently disturbed in patients with Attention Deficit and Hyperactivity Disorders. We hypothesized that the origin of the sleep problems may be the consequence of an abnormal circadian clock setting regulated by the melatonin pathway. Here, we sequenced all the genes of the melatonin pathway AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 in 328 individuals from Sweden including 108 patients with ADHD and 220 from the general population. Non-synonymous mutations were identified in all genes at a similar frequency in patients with ADHD and in controls. Among the functional variations, a splice site mutation (IVS5+2T>C) in ASMT and one stop mutation (Y170X) in MTNR1A were only detected in patients with ADHD. Biochemical analyses indicated that these mutations abolish the activity of ASMT and MTNR1A. We also identified clusters of SNPs within MTNR1B showing significant difference in the allelic frequency between ADHD patients and control (maximum signal at rs10830961 ...
Autism Research, 2019
Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. ... more Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin‐3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin‐3 R451C missense mutation (NL3R451C). Assessing in vivo gut dysfunction, we report faster small intestinal transit in NL3R451C compared to wild‐type mice. Using an ex vivo colonic motility assay, we show increased sensitivity to GABAA receptor modulation in NL3R451C mice, a well‐established Central Nervous System (CNS) feature associated with this mutation. We fur...
Autism research : official journal of the International Society for Autism Research, 2017
Community-based studies have consistently shown a sex ratio heavily skewed towards males in autis... more Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Gen...
The International journal of eating disorders, Jan 22, 2017
A finding consistent with the transdiagnostic approach to eating disorders is that about half of ... more A finding consistent with the transdiagnostic approach to eating disorders is that about half of those with restricting anorexia nervosa (AN) eventually undergo a transition to the binge/purge (BP) subtype or to bulimia nervosa. Given evidence that individuals with bulimic symptoms exhibit elevated weights premorbidly, we tested the hypothesis that among those with AN, highest premorbid BMI would predict which individuals with AN would develop AN-BP. The current study used longitudinal data from a community sample of adolescents with AN in Sweden. Premorbid weights were obtained from growth charts, and participants were re-assessed at 6, 10, and 18 years after first presentation with AN. A greater highest premorbid BMI z score predicted a greater likelihood of developing binge/purge symptoms over 18 years. Among individuals who develop an eating disorder, premorbid BMI may be implicated in the type and course of the eating disorder that emerges.
Molecular Psychiatry, 2016
Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite ou... more Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P = 0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P = 0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6 W923X was transmitted by a mother to her two sons with ASD and one variant CNTN6 P770L was found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD.
Molecular Psychiatry, 2015
Checklistan kan fyllas i av patienten själv (över 15 år), men yngre barn bör få checklistan upplä... more Checklistan kan fyllas i av patienten själv (över 15 år), men yngre barn bör få checklistan uppläst. Frågorna på sid 4 bör värderas av klinikern i en intervju. "Tvångstankar" och "Tvångshandlingar" kan förklaras på följande vis: "Tvångstankar" är störande tankar, idéer, en känsla, fantasier, inre bilder eller impulser som återkommer i dina tankar fastän du skulle vilja slippa dem. Eftersom tvångstankarna leder till obehag brukar man göra tvångshandlingar för att minska obehaget.
Books of Abstracts of the 16th World Congress of the International Association for Child and Adolescent Psychiatry and Allied Professions (IACAPAP), 2004
Twin Research and Human Genetics, 2011
The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing longitudinal twin study targe... more The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing longitudinal twin study targeting all twins born in Sweden since July 1, 1992. Since 2004, parents of twins are interviewed regarding the children's somatic and mental health and social environment in connection with their 9th or 12th birthdays (CATSS-9/12). By January 2010, 8,610 parental interviews concerning 17,220 twins had been completed, with an overall response rate of 80%. At age 15 (CATSS-15) and 18 (CATSS-18), twins and parents complete questionnaires that, in addition to assessments of somatic and mental health, include measures of personality development and psychosocial adaptation. Twin pairs in CATSS-9/12 with one or both twins screening positive for autism spectrum disorders, attention deficit/hyperactivity disorder, tic disorders, developmental coordination disorder, learning disorders, oppositional defiant disorder, conduct disorder, obsessive–compulsive disorder, and/or eating problems have bee...
Research in Developmental Disabilities, 2010
As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Mö bius se... more As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Mö bius sequence (Mö bius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Mö bius/ CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.