[show abstract][hide abstract] ABSTRACT: High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD.
Journal of Autism and Developmental Disorders 09/2013; · 3.34 Impact Factor
[show abstract][hide abstract] ABSTRACT: This study examined the relationship between onset status and current functioning using a recently proposed onset classification system in 272 young children with autism spectrum disorder (ASD). Participants were classified into one of the following groups, based on parent report using the Autism Diagnostic Interview--Revised: Early Onset (symptoms by 12 months, no loss), Delay + Regression (symptoms by 12 months plus loss), Plateau (no early symptoms or loss), and Regression (no early symptoms, followed by loss). Findings indicate that current functioning does not differ according to onset pattern, calling into question the use of onset categorizations for prognostic purposes in children with ASD.
Journal of Autism and Developmental Disorders 03/2011; 41(12):1727-32. · 3.06 Impact Factor
[show abstract][hide abstract] ABSTRACT: The study objectives were to determine whether methyl B12 treatment improves behavioral measures in children with autism and whether improvement is associated with increased plasma concentrations of glutathione (GSH) and an increased redox ratio of reduced glutathione to oxidized glutathione (GSH/GSSG), both of which have been previously identified to be low in children with autism.
This was a 12-week, double-blind, placebo-controlled, cross-over clinical trial of injectable methyl B12. Following this 12-week study, subjects were given the option of entering a 6-month open-label trial of methyl B12.
All procedures took place at the UC Davis M.I.N.D. Institute.
Subjects were 3 to 8 years old with autism.
All subjects received 6 weeks of placebo and 6 weeks of methyl B12 at a dose of 64.5 mcg/kg every three days administered subcutaneously into the buttocks.
Blood for GSH analysis and behavioral assessments were obtained at baseline, week 6, and week 12.
Thirty (30) subjects completed the 12-week, double-blind study and 22 subjects completed the 6-month extension study. No statistically significant mean differences in behavior tests or in glutathione status were identified between active and placebo groups. Nine (9) subjects (30%) demonstrated clinically significant improvement on the Clinical Global Impression Scale and at least two additional behavioral measures. More notably, these responders exhibited significantly increased plasma concentrations of GSH and GSH/GSSG.
Comparison of the overall means between groups suggests that methyl B12 is ineffective in treating behavioral symptoms of autism. However, detailed data analysis suggests that methyl B12 may alleviate symptoms of autism in a subgroup of children, possibly by reducing oxidative stress. An increase in glutathione redox status (GSH/GSSG) may provide a biomarker for treatment response to methyl B12. Additional research is needed to delineate a subgroup of potential responders and ascertain a biomarker for response to methyl B12.
Journal of alternative and complementary medicine (New York, N.Y.) 05/2010; 16(5):555-60. · 1.69 Impact Factor
[show abstract][hide abstract] ABSTRACT: It is often difficult to determine whether there is psychiatric comorbidity in addition to an autism spectrum disorder (ASD) or whether the observed behavior is described adequately by the ASD diagnosis.
To show when the possibility of comorbidity needs to be seriously considered in children and adults with ASD. We will focus on the most common comorbid disorders in children and adults with ASD, namely anxiety, depression and ADHD.
Discussion of the literature and clinical experiences.
In order to diagnose ASD and comorbidities it is important to record a detailed developmental history. This can also serve as a baseline for the client’s behaviour. Changes in the pattern of behaviour with respect to the baseline can often be indicative of the presence of a comorbid disorder.
Since ASD is a life long disorder and comorbidity needing treatment or interventions can be present during various phases of life, the diagnostic procedure needs to continue even after ASD has been diagnosed.
Tijdschrift voor psychiatrie 01/2010; 52(11):753-61.
[show abstract][hide abstract] ABSTRACT: Fragile X syndrome (FXS) is often characterized by mental retardation. However, FXS is also associated with significant emotional and psychiatric problems, including anxiety, depression, attention difficulties, and learning disabilities in the presence of a normal IQ. This report describes a unique woman with the full mutation of FXS who has an exceptional profile of above-average intelligence combined with significant impairments due to anxiety and learning disability. Women with FXS can present primarily with learning and emotional problems, and clinicians should consider FXS in these women regardless of their IQ.
American Journal of Medical Genetics Part A 03/2008; 146(3):376-9. · 2.30 Impact Factor
[show abstract][hide abstract] ABSTRACT: The aim of this study was to examine the prevalence of regressive autism and associated demographic, medical, and developmental factors by using 2 different definitions of regression based on the Autism Diagnostic Interview, Revised.
Subjects were aged 2 to 5 years, with autism (AU) or autism spectrum disorder (ASD) confirmed by standardized measures. Children with regression, defined as a) loss of both language and social skills or b) loss of either language or social skills, were compared with each other and to children with AU or ASD with no reported loss of skills on developmental and adaptive functioning. Parents reported on seizure, gastrointestinal, and sleep concerns.
Fifteen percent (50/333) of the combined AU-ASD group lost both language and social skills; 41% (138/333) lost either language or social skills. No differences were found between the 2 samples of children with regression. Few developmental, demographic, or medical differences were found between the combined regression group and children without loss of skills, in both the larger AU-ASD sample and the more homogeneous AU-only sample. Children with regression had significantly lower communication scores than children without regression.
The prevalence of regression in a large sample of young children with AU and ASD varies depending on the definition used; requiring loss of language significantly underestimates the frequency of developmental regression. Children with regression performed significantly less well than those without regression on 2 measures of communication, but the clinical meaningfulness of these differences is uncertain because of the small effect sizes.
[show abstract][hide abstract] ABSTRACT: achtergrond: Het is dikwijls lastig om te bepalen of er naast een autismespectrumstoornis (ASS) sprake is van psychiatrische comorbiditeit of dat het geobserveerde gedrag voldoende wordt beschreven door de diagnose ASS. doel: Aangeven wanneer men moet denken aan mogelijke comorbide stoornissen bij kinderen en volwassenen met ASS. Hierbij ligt de focus op de drie meest voorkomende comorbide stoornissen bij zowel kinderen als volwassenen met ass, namelijk depressie, angst en ADHD. methode: Bespreken van de beschikbare literatuur en klinische ervaring. resultaten: Bij de diagnostiek van ass en comorbide stoornissen is het belangrijk om een gedegen ontwikkelingsanamnese te hebben. Deze ontwikkelingsanamnese kan tevens dienen als zogenaamd uitgangspunt van het gedrag van de cliënt. Veranderingen in het gedragspatroon ten opzichte van vroeger zijn dikwijls indicatief voor de aanwezigheid van een comorbide stoornis. conclusie: Aangezien ASS een levenslange stoornis is en er in de verschillende levensfases comorbiditeit aanwezig kan zijn die ook behandeling of begeleiding behoeft, zal het diagnostische proces niet stoppen bij het vaststellen van ASS.