[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: Background: Unusual sensory-related behaviors, particularly in response to sound and touch, are associated with the phenotype of autism spectrum disorders (ASD). However, not all children diagnosed with autism exhibit this behavioral profile, and among those who do there may be sensitivity to relatively weak stimulation or tolerance of strong sensory input.
Objectives: In this study, part of a larger, on-going project to identify autism subphenotypes (The Autism Phenome Project), we sought to identify electrophysiological markers of sensory processing subphenotypes. Our approach was to examine the electrocortical response amplitude recorded to stimuli of increasing loudness. A critical feature of this approach was the development of procedures that yielded robust data from individual very young participants with ASD.
Methods: 60-channel event-related potentials (ERPs) were elicited by randomly presented 50, 60, 70, and 80 dB 50 ms complex tones via headphones from 30 typically developing (TD) toddlers and 30 children diagnosed with ASD. Diagnostic criteria were based on ADOS, ADI-R, DSM-IV and clinical observation. All children (age 2.5 - 4 yrs.) were judged to have clinically normal hearing. ~1000 stimuli with inter-stimulus intervals of 1-2 s were presented as children passively listened to the stimuli and watched a quiet video of their choice. ERPs were derived separately for each intensity. Data analyses included examination of all-waveform overlays, animations of scalp current density topography and derivation of Laplacian waveforms from identified scalp current foci.
Results: For all children, clearly defined auditory ERPs were obtained to at least one intensity level. TD children, compared with children with ASD, generally had more well-defined ERPs to the lower intensity levels and showed a pattern of graded responses with larger cortical activity evoked by louder stimuli. The pattern for children with ASD was much more variable. However, four distinct loudness dependency response profiles were identifiable: 1) a pattern that resembled the typical response of increasing ERP amplitude with increasing stimulus intensity (N=12); 2) a pattern of little variation between intensity levels (Min-diff) (N=6); 3) a pattern of increasing response amplitude that included secondary or echo cortical activations (N=7); and 4) a striking pattern of response amplitude reversal with the largest responses seen to 50 dB stimuli, with decreasing response amplitude to sounds of increasing loudness. (N=5). The groups differed by age, with the inverse group younger than the echo and Min-dif groups (38 mo vs. 45 mo). Initial examination of neuropsychological data associated with these subgroups, analyzed with age as a covariate, show no difference in DQ scores (Mullens), nor overall ADOS scores. However, ADOS behavioral subscores for the Inverse group were significantly lower than for Echo and TD-like groups and marginally lower than the Min-diff group. The Min-diff group was significantly more impaired on the ADI-R behavioral subscale than each other group.
Conclusions: These data suggest that there are distinct electrophysiological sensory response profiles for subgroups of children with ASD that may account for the observed phenotype of atypical reactions to sounds in some children, and which bear relation with other phenotypic measures.
International Meeting for Autism Research 2009; 05/2009
[Show abstract][Hide abstract] ABSTRACT: Background: Language deficits and delays are a hallmark of young children diagnosed with autism spectrum disorders. Differences in the incidence of autism by gender is well documented; however there is scant information regarding the pattern of language skills and gender profiles in young children with autism. Understanding the profiles of young children with autism can inform developmental trajectories and provide salient evidence for treatment approaches.,Objectives: The purpose of this study is to examine the language and cognitive profiles with autism spectrum disorders to further our understanding of autism phenotypes and subtypes of autism in the context of language skills.,Methods: Participants included 24 children diagnosed with ASD (12 boy and 12 girls) with ages ranging from 24-42 months who were also matched on age and developmental level. Children were classified as verbal or nonverbal based on the Autism Diagnostic Observation Schedule, and assessed using the Mullen Scales of Early Learning, the Expressive One Word Picture Vocabulary Test, the Peabody Picture Vocabulary Test, and language subtests of the Vineland Adaptive Behavior Scales.,Results: The results indicated that the young girls with autism demonstrated significant deficits on all language and cognitive profiles when compared with the young boys with autism on both verbal and nonverbal measures of cognition, and language (both receptive and expressive measures). A previous study conducted by Lord, Schopler & Revicki, (1982) reported males showing more advanced skills on the PPVT and nonverbal IQ in children ages 3 to 8 year olds; however the receptive skill differences disappeared when nonverbal IQ was controlled. Other studies examining gender have been with older children and adults, and have not examined profiles in very young children with autism. Conclusions: The preliminary results of the current study may indicate neurocognitive mechanisms underlying language processing in young children with autism that have both theoretical and clinical implications. While language skills may be independent of IQ in autism, it is clear that it is important to understand developmental profiles that may have long term prognostic indicators for young children with autism, and the influence that sex differences may play in the domain of language skill development.
International Meeting for Autism Research 2009; 05/2009
[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.