1. Berg AT, Plioplys S, Tuchman R. {{Risk and Correlates of Autism Spectrum Disorder in Children With Epilepsy: A Community-Based Study}}. {J Child Neurol};2011 (Mar 18)
The prevalence of autism spectrum disorders for children with epilepsy in the general population is unknown. In a prospective community-based study of newly diagnosed childhood epilepsy, autism spectrum disorder was determined from parental interviews, medical records, and expert reviews by a child psychiatrist. A total of 28 (5%) participants had autism spectrum disorders. West syndrome (prevalence ratio = 4.53, P = .002) and intellectual impairment (prevalence ratio = 4.34, P = .002) were independently associated with autism spectrum disorder. Absent West syndrome, male gender was associated with autism spectrum disorder (prevalence ratio = 3.71, P = .02). For participants with overall normal cognitive abilities, 2.2% had autism spectrum disorder, which is substantially higher than estimates from the general population (0.5%-0.9%). In addition to West syndrome, which has repeatedly been shown to have a special relationship with autism spectrum disorder, the most important determinants of autism spectrum disorder in the general population (intellectual impairment and male sex) are also important in young people with epilepsy.
2. Bronsard G, Botbol M, Tordjman S. {{Correction: aggression in low functioning children and adolescents with autistic disorder}}. {PLoS One};2011;6(3)
[This corrects the article on p. e14358 in vol. 5.].
3. Buehler MR. {{A proposed mechanism for autism: an aberrant neuroimmune response manifested as a psychiatric disorder}}. {Med Hypotheses};2011 (Mar 19)
Autism, an incurable neurodevelopmental brain disorder, is a complex psychopathology in which the affected individual cannot effectively self-regulate their sensory inputs toward coherent and focused motor outputs. There have been many hypotheses as to the etiology of autism – genetics, neurotransmitter imbalances, early childhood immunizations, xenobiotic and teratogenic agents, and maternal infection; the disorder can perhaps be studied best under the field of « Psychoneuroimmunology », which analyzes systemic and psychopathologies from an integrated approach through the combined effects of the nervous, immune, and endocrine systems. Using principles of psychoneuroimmunology along with previously established but yet un-linked scientific principles and observations, this paper proposes a neuroimmune-based mechanistic hypothesis for the etiology of autism that connects elevated levels of maternal pro-inflammatory cytokines to autistic symptoms in her offspring through a logical sequence of events. While both researchers and clinicians often note correlations between pro-inflammatory cytokine levels and autistic symptoms in affected individuals, no specific mechanism has been documented that logically and directly connects the two. I propose that pro-inflammatory cytokines arising from maternal inflammation, infection, and, possibly, autoimmunity, pass through the placenta; enter the fetal circulation; cross the fetal blood-brain barrier (BBB); and cause aberrant neuronal growth and plasticity within the fetal brain via a « cytokine-storm ». Microglia and astrocyte stimulation lead to a positive-feedback loop that also facilitates the development of a chronic inflammatory environment within the fetus, pre-disposing it to lifelong comorbid psychiatric and systemic pathologies. Such a mechanism could account for many of the observed symptoms and behaviors of autistic individuals such as hyper-sensitivity to environmental stimuli, object fixation, echolalia, repetitive physical behaviors, chronic enterocolitis, autoimmune disease, and, at the extreme, savantism. The thiazolidinedione pioglitazone (and possibly rosiglitazone), a non-steroidal anti-inflammatory drug (NSAID), which is commonly used to lower blood glucose levels and associated inflammatory markers in patients with diabetes, and histamine receptor blockers, as well as monitoring and limiting sucrose-containing foods, might prove to be effective preventative therapies for the development of autism in the fetus for pregnant women displaying either a cytokine-induced depression or other elevated systemic inflammatory state conditions.
4. Carter AS, Messinger DS, Stone WL, Celimli S, Nahmias AS, Yoder P. {{A randomized controlled trial of Hanen’s ‘More Than Words’ in toddlers with early autism symptoms}}. {J Child Psychol Psychiatry};2011 (Mar 22)
Background: This randomized controlled trial compared Hanen’s ‘More than Words’ (HMTW), a parent-implemented intervention, to a ‘business as usual’ control group. Methods: Sixty-two children (51 boys and 11 girls; M age = 20 months; SD = 2.6) who met criteria for autism spectrum disorders (ASD) and their parents participated in the study. The HMTW intervention was provided over 3.5 months. There were three measurement periods: prior to randomization (Time 1) and at 5 and 9 months post enrollment (Times 2 and 3). Children’s communication and parental responsivity were measured at each time point. Children’s object interest, a putative moderator, was measured at Time 1. Results: There were no main effects of the HMTW intervention on either parental responsivity or children’s communication. However, the effects on residualized gains in parental responsivity from Time 1 to both Times 2 and 3 yielded noteworthy effect sizes (Glass’s Delta = .71, .50 respectively). In contrast, there were treatment effects on child communication gains to Time 3 that were moderated by children’s Time 1 object interest. Children with lower levels of Time 1 object interest exhibited facilitated growth in communication; children with higher levels of object interest exhibited growth attenuation. Conclusions: The HMTW intervention showed differential effects on child communication depending on a baseline child factor. HMTW facilitated communication in children with lower levels of Time 1 object interest. Parents of children who evidence higher object interest may require greater support to implement the HMTW strategies, or may require different strategies than those provided by the HMTW curriculum.
5. Durkin K, Conti-Ramsden G, Simkin Z. {{Functional Outcomes of Adolescents with a History of Specific Language Impairment (SLI) with and without Autistic Symptomatology}}. {J Autism Dev Disord};2011 (Mar 18)
This study investigates whether the level of language ability and presence of autistic symptomatology in adolescents with a history of SLI is associated with differences in the pattern of difficulties across a number of areas of later functioning. Fifty-two adolescents with a history of SLI participated. At age 14, 26 participants had a history of SLI but no autistic symptomatology and 26 had a history of SLI and autistic symptomatology. At age 16, outcomes were assessed in the areas of friendships, independence, academic achievement, emotional health and early work experience for both subgroups and for 85 typically developing peers. Autistic symptomatology was a strong predictor of outcomes in friendships, independence and early work experience whilst language was a strong predictor of academic achievement. No significant associations were found for later emotional health.
6. Edens AC, Lyons MJ, Duron RM, Dupont BR, Holden KR. {{Autism in two females with duplications involving Xp11.22-p11.23}}. {Dev Med Child Neurol};2011 (Mar 21)
We present two phenotypically similar females with Xp duplication who have autism and epilepsy. Case 1 is a 14-year-old Honduran female with autism and medically refractory complex partial, secondarily generalized epilepsy. Case 2 is a 3-year-old Austrian female with autism and medically refractory complex partial epilepsy. Both patients also share features of severe intellectual disability (case 1 has a developmental quotient of 23, case 2 has a developmental quotient of 42) and dysmorphic facial features. Autism was confirmed by thorough clinical evaluations and testing. Case 1 has a karyotype of 46,X,dup(X)(p11.2-p22.33) and a highly skewed X-inactivation pattern (94:6). Brain magnetic resonance imaging (MRI) and electroencephalogram (EEG) were abnormal. Case 2 has a 5-megabase duplication of Xp11.22-p11.23 on chromosome microarray analysis. The patient has a random X-inactivation pattern (77:23). Brain MRI was normal, but EEG was abnormal. Both patients have duplications involving the Xp11.22-p11.23 region, indicating that this is an area of interest for future translational autism research.
7. Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafreniere RG, Fathalli F, Joober R, Krebs MO, Delisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA. {{Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia}}. {Hum Genet};2011 (Mar 22)
Growing genetic evidence is converging in favor of common pathogenic mechanisms for autism spectrum disorders (ASD), intellectual disability (ID or mental retardation) and schizophrenia (SCZ), three neurodevelopmental disorders affecting cognition and behavior. Copy number variations and deleterious mutations in synaptic organizing proteins including NRXN1 have been associated with these neurodevelopmental disorders, but no such associations have been reported for NRXN2 or NRXN3. From resequencing the three neurexin genes in individuals affected by ASD (n = 142), SCZ (n = 143) or non-syndromic ID (n = 94), we identified a truncating mutation in NRXN2 in a patient with ASD inherited from a father with severe language delay and family history of SCZ. We also identified a de novo truncating mutation in NRXN1 in a patient with SCZ, and other potential pathogenic ASD mutations. These truncating mutations result in proteins that fail to promote synaptic differentiation in neuron coculture and fail to bind either of the established postsynaptic binding partners LRRTM2 or NLGN2 in cell binding assays. Our findings link NRXN2 disruption to the pathogenesis of ASD for the first time and further strengthen the involvement of NRXN1 in SCZ, supporting the notion of a common genetic mechanism in these disorders.
8. Gray L, Ansell P, Baird G, Parr JR. {{The continuing challenge of diagnosing autism spectrum disorder in children with Down syndrome}}. {Child Care Health Dev};2011 (Mar 23)
9. Klintwall L, Gillberg C, Bolte S, Fernell E. {{The Efficacy of Intensive Behavioral Intervention for Children with Autism: A Matter of Allegiance?}}. {J Autism Dev Disord};2011 (Mar 18)
10. Lopez-Hernandez T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martinez A, Estevez R, van der Knaap MS. {{Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism}}. {Am J Hum Genet};2011 (Mar 16)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurological deterioration. Recessive MLC1 mutations are observed in 75% of patients with MLC. Genetic-linkage studies failed to identify another gene. We recently showed that some patients without MLC1 mutations display the classical phenotype; others improve or become normal but retain macrocephaly. To find another MLC-related gene, we used quantitative proteomic analysis of affinity-purified MLC1 as an alternative approach and found that GlialCAM, an IgG-like cell adhesion molecule that is also called HepaCAM and is encoded by HEPACAM, is a direct MLC1-binding partner. Analysis of 40 MLC patients without MLC1 mutations revealed multiple different HEPACAM mutations. Ten patients with the classical, deteriorating phenotype had two mutations, and 18 patients with the improving phenotype had one mutation. Most parents with a single mutation had macrocephaly, indicating dominant inheritance. In some families with dominant HEPACAM mutations, the clinical picture and magnetic resonance imaging normalized, indicating that HEPACAM mutations can cause benign familial macrocephaly. In other families with dominant HEPACAM mutations, patients had macrocephaly and mental retardation with or without autism. Further experiments demonstrated that GlialCAM and MLC1 both localize in axons and colocalize in junctions between astrocytes. GlialCAM is additionally located in myelin. Mutant GlialCAM disrupts the localization of MLC1-GlialCAM complexes in astrocytic junctions in a manner reflecting the mode of inheritance. In conclusion, GlialCAM is required for proper localization of MLC1. HEPACAM is the second gene found to be mutated in MLC. Dominant HEPACAM mutations can cause either macrocephaly and mental retardation with or without autism or benign familial macrocephaly.
11. Peca J, Feliciano C, Ting JT, Wang W, Wells MF, Venkatraman TN, Lascola CD, Fu Z, Feng G. {{Shank3 mutant mice display autistic-like behaviours and striatal dysfunction}}. {Nature};2011 (Mar 20)
Autism spectrum disorders (ASDs) comprise a range of disorders that share a core of neurobehavioural deficits characterized by widespread abnormalities in social interactions, deficits in communication as well as restricted interests and repetitive behaviours. The neurological basis and circuitry mechanisms underlying these abnormal behaviours are poorly understood. SHANK3 is a postsynaptic protein, whose disruption at the genetic level is thought to be responsible for the development of 22q13 deletion syndrome (Phelan-McDermid syndrome) and other non-syndromic ASDs. Here we show that mice with Shank3 gene deletions exhibit self-injurious repetitive grooming and deficits in social interaction. Cellular, electrophysiological and biochemical analyses uncovered defects at striatal synapses and cortico-striatal circuits in Shank3 mutant mice. Our findings demonstrate a critical role for SHANK3 in the normal development of neuronal connectivity and establish causality between a disruption in the Shank3 gene and the genesis of autistic-like behaviours in mice.
12. Robinson EB, Munir K, Munafo MR, Hughes M, McCormick MC, Koenen KC. {{Stability of autistic traits in the general population: further evidence for a continuum of impairment}}. {J Am Acad Child Adolesc Psychiatry};2011 (Apr);50(4):376-384.
OBJECTIVE: This study investigated the developmental course of autistic traits in a nationally representative sample of subjects 7 to 13 years of age. METHOD: The parents of 6,539 children in the Avon Longitudinal Study of Parents and Children completed the Social and Communication Disorders Checklist at ages 7, 10, and 13. The phenotypic progression of autistic traits was assessed in the full sample and in high-scoring individuals (e.g., top 10%, 5%). Gender, IQ, and overall behavior difficulties were examined as potentially relevant influences on autistic trait trajectories. RESULTS: Autistic traits were highly stable in the general population overall and in the high-scoring groups. In the full sample, there was no change in mean Social and Communication Disorders Checklist scores for female subjects ages 7 to 13 (p = .43). Scores for male subjects decreased slightly, but significantly, on the order of 0.1 standard deviations (p < .001). There was no mean change in parent-rated autistic traits within any of the high-scoring groups. IQ was not related to phenotypic progression; high parent-rated behavior problems predicted slight improvement in Social and Communication Disorders Checklist scores over the course of the study period in high-scoring individuals (p < .01). CONCLUSIONS: These findings suggest that autistic traits are highly stable in the general population, even in individuals with the highest concentrations of autism-like behaviors. Phenotypic stability is consistent with expectations for individuals with autism spectrum disorders, providing further support for a phenomenologic continuum across the clinical threshold. Moreover, the gap between female and male risk for autistic symptomology is consistent over time.
13. Rodgers J, Riby DM, Janes E, Connolly B, McConachie H. {{Anxiety and Repetitive Behaviours in Autism Spectrum Disorders and Williams Syndrome: A Cross-Syndrome Comparison}}. {J Autism Dev Disord};2011 (Mar 22)
Children with Autism Spectrum Disorder or Williams syndrome are vulnerable to anxiety. The factors that contribute to this risk remain unclear. This study compared anxiety in autism spectrum disorder and Williams Syndrome and examined the relationship between repetitive behaviours and anxiety. Thirty-four children with autism and twenty children with Williams Syndrome were assessed with measures of anxiety and repetitive behaviours. Children with autism had higher levels of anxiety. Within the autism sample higher levels of repetitive behaviours were associated with more anxiety. This was not replicated in the Williams Syndrome sample, indicating a differential role for restricted and repetitive behaviours in relation to anxiety. Understanding the links between repetitive behaviours and anxiety is essential for effective intervention.
14. Rossi CC, Van de Water J, Rogers SJ, Amaral DG. {{Detection of Plasma Autoantibodies to Brain Tissue in Young Children with and without Autism Spectrum Disorders}}. {Brain Behav Immun};2011 (Mar 17)
Autism spectrum disorders (ASDs) are characterized by impaired language and social skills, often with restricted interests and stereotyped behaviors. A previous investigation of blood plasma from children with ASDs (mean age = 5(1/2) years) demonstrated that 21% of samples contained autoantibodies that reacted intensely with GABAergic Golgi neurons of the cerebellum while no samples from non-sibling, typically developing children showed similar staining (Wills et al., 2009). In order to characterize the clinical features of children positive for these autoantibodies, we analyzed plasma samples from children enrolled in the Autism Phenome Project, a multidisciplinary project aimed at identifying subtypes of ASD. Plasma from male and female children (mean age = 3.2 years) was analyzed immunohistochemically for the presence of autoantibodies using histological sections of macaque monkey brain. Immunoreactivity to cerebellar Golgi neurons and other presumed interneurons was observed for some samples but there was no difference in the rate of occurrence of these autoantibodies between children with ASD and their typically developing peers. Staining of neurons, punctate profiles in the molecular layer of the dentate gyrus, and neuronal nuclei were also observed. Taken together, 42% of controls and subjects with ASD demonstrated immunoreactivity to some neural element. Interestingly, children whose plasma reacted to brain tissue had scores on the Child Behavior Checklist (CBCL) that indicated increased behavioral and emotional problems. Children whose plasma was immunoreactive with neuronal cell bodies scored higher on multiple CBCL scales. These studies indicate that additional research into the genesis and prevalence of brain-directed autoantibodies is warranted.
15. Smith RM, Sadee W. {{Synaptic signaling and aberrant RNA splicing in autism spectrum disorders}}. {Front Synaptic Neurosci};2011;3:1.
Interactions between presynaptic and postsynaptic cellular adhesion molecules (CAMs) drive synapse maturation during development. These trans-synaptic interactions are regulated by alternative splicing of CAM RNAs, which ultimately determines neurotransmitter phenotype. The diverse assortment of RNAs produced by alternative splicing generates countless protein isoforms necessary for guiding specialized cell-to-cell connectivity. Failure to generate the appropriate synaptic adhesion proteins is associated with disrupted glutamatergic and gamma-aminobutyric acid signaling, resulting in loss of activity-dependent neuronal plasticity, and risk for developmental disorders, including autism. While the majority of genetic mutations currently linked to autism are rare variants that change the protein-coding sequence of synaptic candidate genes, regulatory polymorphisms affecting constitutive and alternative splicing have emerged as risk factors in numerous other diseases, accounting for an estimated 40-60% of general disease risk. Here, we review the relationship between aberrant RNA splicing of synapse-related genes and autism spectrum disorders.
16. Solomon M, Smith AC, Frank MJ, Ly S, Carter CS. {{Probabilistic reinforcement learning in adults with autism spectrum disorders}}. {Autism Res};2011 (Mar 18)
Background: Autism spectrum disorders (ASDs) can be conceptualized as disorders of learning, however there have been few experimental studies taking this perspective. Methods: We examined the probabilistic reinforcement learning performance of 28 adults with ASDs and 30 typically developing adults on a task requiring learning relationships between three stimulus pairs consisting of Japanese characters with feedback that was valid with different probabilities (80%, 70%, and 60%). Both univariate and Bayesian state-space data analytic methods were employed. Hypotheses were based on the extant literature as well as on neurobiological and computational models of reinforcement learning. Results: Both groups learned the task after training. However, there were group differences in early learning in the first task block where individuals with ASDs acquired the most frequently accurately reinforced stimulus pair (80%) comparably to typically developing individuals; exhibited poorer acquisition of the less frequently reinforced 70% pair as assessed by state-space learning curves; and outperformed typically developing individuals on the near chance (60%) pair. Individuals with ASDs also demonstrated deficits in using positive feedback to exploit rewarded choices. Conclusions: Results support the contention that individuals with ASDs are slower learners. Based on neurobiology and on the results of computational modeling, one interpretation of this pattern of findings is that impairments are related to deficits in flexible updating of reinforcement history as mediated by the orbito-frontal cortex, with spared functioning of the basal ganglia. This hypothesis about the pathophysiology of learning in ASDs can be tested using functional magnetic resonance imaging.
17. Spratt EG, Nicholas JS, Brady KT, Carpenter LA, Hatcher CR, Meekins KA, Furlanetto RW, Charles JM. {{Enhanced Cortisol Response to Stress in Children in Autism}}. {J Autism Dev Disord};2011 (Mar 22)
Children with Autism often show difficulties in adapting to change. Previous studies of cortisol, a neurobiologic stress hormone reflecting hypothalamic-pituitary-adrenal (HPA) axis activity, in children with autism have demonstrated variable results. This study measured cortisol levels in children with and without Autism: (1) at rest; (2) in a novel environment; and (3) in response to a blood draw stressor. A significantly higher serum cortisol response was found in the group of children with autism. Analysis showed significantly higher peak cortisol levels and prolonged duration and recovery of cortisol elevation following the blood-stick stressor in children with autism. This study suggests increased reactivity of the HPA axis to stress and novel stimuli in children with autism.
18. Tuchman R, Cuccaro M. {{Epilepsy and Autism: Neurodevelopmental Perspective}}. {Curr Neurol Neurosci Rep};2011 (Mar 22)
Epilepsy and autism coexist in up to 20% of children with either disorder. Current studies suggest that a frequent co-occurring condition in epilepsy and autism is intellectual disability, which shows a very high prevalence in those with both autism and epilepsy. In addition, these recent studies suggest that early-onset seizures may index a group of infants at high risk for developing autism, usually with associated intellectual deficits. In this review we discuss recent advances in the conceptualization of shared anatomical and molecular mechanisms that may account for the coexistence of epilepsy, autism, and intellectual disability. A major contribution to our improved understanding of the relationship among these three phenotypes is the discovery of multiple genomic variants that cut across them as well as other neurobehavioral phenotypes. As these discoveries continue they are very likely to elucidate causal mechanisms for the various phenotypes and pinpoint biologic pathways that may be amenable to therapeutic interventions for this group of neurodevelopmental disorders.
19. Veenstra-Vanderweele J, Warren Z. {{Social communication deficits in the general population: how far out does the autism spectrum go?}}. {J Am Acad Child Adolesc Psychiatry};2011 (Apr);50(4):326-328.
20. Weidle B, Gasnes T, Skjetne GK, Hoyland AL. {{[Asperger syndrome in a Norwegian county 2005-08.]}}. {Tidsskr Nor Laegeforen};2011 (Mar 18);131(6):573-576.
Background. The prevalence of autism spectrum disorders (ASD) has increased 10-fold in recent years. We have assessed the prevalence of high functioning autism spectrum disorders in a clinical sample in a Norwegian county. Material and method. Medical records from the health specialist services were assessed for children (0-18 years of age) with a diagnosis of Asperger syndrome or pervasive developmental disorder not otherwise specified (PDD-NOS) in South Trondelag county at two time-points (1.1.2005 and 1.1.2008). We also estimated the prevalence of high functioning children with autism (HFA) 1.1.2008. Results. The number of children and adolescents with the diagnosis Asperger syndrome increased from 70 in 2005 to 121 in 2008 and that for children with PDD-NOS increased from 22 to 44 in the same period. In the child mental health service, the number of patients with Asperger syndrome increased from 51 in 2005 to 99 in 2008 and in the habilitation services there were 32 such patients in both years assessed. Some patients were registered in both services: 13 in 2005 and 10 in 2008. In 2008, the prevalence of all high functioning autism spectrum disorders together was 0.35 % of the population in the age 5-18 years. Almost none of the children were below 5 years at the time of assessment. Interpretation. In South Trondelag the prevalence of children with high functioning autism spectrum disorders are in the same size order as that reported from international surveys. This can be explained by increased awareness on such disorders and that more able people are diagnosed. The difference in prevalence between the health services reflects different diagnostic traditions and changed referral routines.
21. Whitehouse AJ, Maybery M, Wray JA, Hickey M. {{No association between early gastrointestinal problems and autistic-like traits in the general population}}. {Dev Med Child Neurol};2011 (Mar 21)
Aim The aim of this study was to determine whether gastrointestinal problems in early childhood relate to autistic-like traits in a general population sample. Method The parents of 804 children (442 females; 362 males) reported at 1-, 2-, 3-, and 5-year follow-ups whether their child had been taken to a hospital, general practitioner, or health clinic for any of five gastrointestinal symptoms: (1) constipation; (2) diarrhoea; (3) abdominal bloating, discomfort, or irritability; (4) gastro-oesophageal reflux or vomiting; and (5) feeding issues or food selectivity. Parents also reported whether their child had received the measles, mumps, and rubella vaccination. Autistic-like traits were measured when the children had reached early adulthood (mean age 19y 7mo; SD 0.63y) using a self-report questionnaire, the Autism Spectrum Quotient (AQ). Results There was no statistically significant difference in AQ scores between those who had (n=133) and those who had not (n=671) experienced early gastrointestinal symptoms. chi(2) analyses revealed that the children with early gastrointestinal problems were no more likely to be represented in the upper quintile of scores on any of the AQ scales. The measles, mumps, and rubella vaccination was unrelated to gastrointestinal symptoms or AQ scores. Interpretation Parent-reported gastrointestinal problems in early childhood are unrelated to self-reported autistic-like traits in the general population.
22. Xia RR. {{Effectiveness of nutritional supplements for reducing symptoms in autism-spectrum disorder: a case report}}. {J Altern Complement Med};2011 (Mar);17(3):271-274.
Abstract Objective: This report presents a case of a 9-year-old boy with autism that responded positively to nutritional supplements. Methods: The supplements were dimethylglycine and a combination of a large dose of vitamin B6 (pyridoxal HCl) and magnesium. The Autism Treatment Evaluation Checklist (ATEC) was used for outcome assessment and administered by 2 of his family members both before the nutritional supplements and 5 months into the supplements, thereby referred to as pretest and post-test, respectively. Two (2) assessors independently performed evaluations. The ATEC evaluates four areas: communication, sociability, sensory/cognitive awareness, and behavior. The lower the scores are, the less severe the symptoms are. Results: The ATEC evaluations by 2 independent assessors showed that the changes in total ATEC were from 63 at pretest to 33 at post-test, and from 64 at pretest to 30 at post-test, respectively. These changes represented reductions of 47.6% and 53.1%. A strong inter-rater reliability was demonstrated, with an intraclass correlation coefficient of 0.988. The school teachers also noticed improvements in various areas consistent with the ATEC evaluations. Conclusions: Although the reported findings cannot be generalized, this case report provides useful preliminary evidence to an accumulating body of literature supporting the theory and efficacies of nutritional supplements in autism-spectrum disorders.
