1. Borders CM, Bock SJ, Szymanski C. {{Teacher Ratings of Evidence-Based Practices From the Field of Autism}}. {J Deaf Stud Deaf Educ};2014 (Oct 14)
Students who have a hearing loss and a comorbid diagnosis of an autism spectrum disorder (ASD) have multiple obstacles to overcome. Using Gallaudet Research Institute data, Szymanski, Brice, Lam, and Hotto calculated 1 deaf student in 59 received services for both a hearing loss and an ASD (Szymanski, C. A., Brice, P. J., Lam, K. H., & Hotto, S. A. (2012). Deaf children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 42, 2027-2037. doi:10.1007/s10803-012-1452-9). Teachers of the deaf (TOD) in a Midwestern state completed a survey (N = 68) to indicate familiarity with evidence-based practices (EBP) from the field of ASD in order to confirm or reject the hypothesis that they would not report familiarity with these practices. Further analyses explored use and perceived effectiveness of EBP for those TOD who had familiarity with the instructional practices. Results of the study indicated that there was wide variance in TOD familiarity, use, and perceived effectiveness of the EBP.
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2. Carr J, Xu D, Yoshinaga-Itano C. {{Language ENvironment Analysis Language and Autism Screen and the Child Development Inventory Social Subscale as a Possible Autism Screen for Children Who Are Deaf or Hard of Hearing}}. {Semin Speech Lang};2014 (Nov);35(4):266-275.
The Language ENvironment Analysis Language and Autism Screen (LLAS) is an automated vocal production analysis that has been shown to be a valid screener for autism in hearing children between the ages of 24 to 48 months of age. Although there is reportedly a higher incidence of autism among children who are deaf or hard of hearing, the diagnosis of autism is usually later than that in children with hearing. None of the traditional screening instruments have been used with children with hearing loss. Data about the utility of LLAS with children who are deaf or hard of hearing will be presented and discussed. Though more data will be needed, an LLAS at-risk flag in conjunction with the Social Quotient from the Child Development Inventory holds significant promise for a screen for children who are deaf or hard of hearing.
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3. Haar S, Berman S, Behrmann M, Dinstein I. {{Anatomical Abnormalities in Autism?}}. {Cereb Cortex};2014 (Oct 14)
Substantial controversy exists regarding the presence and significance of anatomical abnormalities in autism spectrum disorders (ASD). The release of the Autism Brain Imaging Data Exchange ( approximately 1000 participants, age 6-65 years) offers an unprecedented opportunity to conduct large-scale comparisons of anatomical MRI scans across groups and to resolve many of the outstanding questions. Comprehensive univariate analyses using volumetric, thickness, and surface area measures of over 180 anatomically defined brain areas, revealed significantly larger ventricular volumes, smaller corpus callosum volume (central segment only), and several cortical areas with increased thickness in the ASD group. Previously reported anatomical abnormalities in ASD including larger intracranial volumes, smaller cerebellar volumes, and larger amygdala volumes were not substantiated by the current study. In addition, multivariate classification analyses yielded modest decoding accuracies of individuals’ group identity (<60%), suggesting that the examined anatomical measures are of limited diagnostic utility for ASD. While anatomical abnormalities may be present in distinct subgroups of ASD individuals, the current findings show that many previously reported anatomical measures are likely to be of low clinical and scientific significance for understanding ASD neuropathology as a whole in individuals 6-35 years old.
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4. Kaye L, Kurtz M, Tierney C, Soni A, Augustyn M. {{Gaze Maintenance and Autism Spectrum Disorder}}. {J Dev Behav Pediatr};2014 (Oct 16)
CASE: Chase is a 5(1/2)-year-old boy whom you have followed in your primary care practice since age 26 months. He was born full-term vaginal delivery weighing 6 pounds 15 ounces. His biological mother used heroin, tobacco, and cocaine during pregnancy. From 8 weeks to 18 months, he spent time in a foster home where he was provided limited attention and nurturing. At age 18 months, he entered a loving foster home; at 26 months, he was adopted. There is maternal history of attention-deficit hyperactivity disorder, learning disability, depression, bipolar disorder, and substance abuse but no history of autism or cognitive disability.Chase received early intervention before adoption. Specific concerns are unknown. At the time of his adoption, he had delays in gross motor and fine motor skills, nonverbal communication, and speech production. Familiar listeners find Chase to be 100% intelligible but unfamiliar listeners understand about 70% of what Chase says. He enjoys being with his adopted mother and imitating her. He has demonstrated significant anxiety during his play therapy. He has difficulty in paying attention to multistep directions. Chase can point and wave but has difficulty following someone’s eyes to see where another person is looking.Chase enjoys a variety of interests but has a special fixation on Toy Story characters. Chase does initiate social interactions but can be aggressive toward his siblings and oppositional toward his parents. He is not aggressive at school. Teachers note hyperactivity and impulsivity. Chase is bothered by bright lights and by others making loud noises but has no difficulty with crowds. Chase is reported to have difficulty in transitioning between activities.At his 5-year-old visit, you as well as his mother and therapists note that he has trouble following with his eyes so he is referred to a neuro-ophthalmologist. Evaluation showed Chase was able to fix on and follow objects and light, his peripheral vision was normal, his pupils were equal and reactive without afferent pupillary defect, and normal visual tracking as assessed through pursuit and saccades. There were some head jerking motions observed which were not thought to be part of Chase’s attempts to view objects. Gaze impersistence was noted, although it was not clear if this was due to a lack of attention or a true inability to maintain a gaze in the direction instructed.On review of the school’s speech and language report, they state that he is >90% intelligible. He has occasional lip trills. Testing with the Clinical Evaluation of Language Fundamentals shows mild delays in receptive language, especially those that require visual attention. Verbal Motor Production Assessment for Children reveals focal oromotor control and sequencing skills that are below average, with groping when asked to imitate single oromotor nonspeech movements and sequenced double oromotor nonspeech movements.At 5(1/2) years, he returns for follow-up, and he is outgoing and imaginative, eager to play and socialize. He makes eye contact but does not always maintain it. He asks and responds to questions appropriately, and he is able to follow verbal directions and verbal redirection. He is very interested in Toy Story characters but willing to share them and plays with other toys. Chase’s speech has predictable, easy to decode sound substitutions.On interview with him, you feel that he has borderline cognitive abilities. He also demonstrates good eye contact but lack of visual gaze maintenance; this is the opposite of the pattern you are accustomed to in-patients with autism spectrum disorder. What do you do next?
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5. Kellogg EC, Thrasher A, Yoshinaga-Itano C. {{Early predictors of autism in young children who are deaf or hard of hearing: three longitudinal case studies}}. {Semin Speech Lang};2014 (Nov);35(4):276-287.
Early assessment data (starting at 9 months) for three children who were deaf or hard of hearing and later diagnosed with autism spectrum disorder (ASD) were analyzed. The results from the MacArthur-Bates Communicative Development Inventories (CDI) Words and Gestures and the Child Development Inventory were used to develop three profiles of children who were deaf or hard of hearing and had ASD. One child lacked expected skills and language at ages 9 and 14 months. Another child lost skills and language after 17 months. The third child had results usually within or above the average range until 3 years of age. However, his age quotient decreased for MacArthur-Bates CDI: Words and Gestures Words Expressed and the Child Development Inventory: Social to significantly below the normal range. Although it can be difficult to diagnose the co-occurrence of ASD and deafness, there were early warning signs for these children.
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6. Lisik MZ. {{[Molecular aspects of autism spectrum disorders]}}. {Psychiatr Pol};2014 (Jul-Aug);48(4):689-700.
Autism, also known as autism spectrum disorders (ASD), is etiologically and clinically heterogeneous group ofneurodevelopmental disabilities. ASD affects 1% of child’s population. The sex difference is observed with 4:1 male to female ratio. This is descriptive diagnosis based on observation and analysis of behavior and cognitive functions. ASD does not fit the criteria of known patterns of inheritance. For the majority of patients polygenic model of inheritance with many interacting genes is the most probable. The etiology ofASD is poorly understood. It is estimated that a specific genetic etiology can be determined in up to 20% of individuals with ASD. Advances in microarray technology and next generation sequencing are revealing copy variant numbers (CNV) and single nucleotides polymorphisms (SNP) with important roles in synapse formation and function. For families where a specific etiology has been identified, the risk of recurrence in siblings generally depends on the etiologic diagnosis. For autism of unknown cause, the sibling risk varies across studies but is generally considered to range from 5 to 10%.
7. McMahon JJ, Yu W, Yang J, Feng H, Helm M, McMahon E, Zhu X, Shin D, Huang Y. {{Seizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in mice}}. {Neurobiol Dis};2014 (Oct 11)
Epilepsy and autism spectrum disorder (ASD) are common comorbidities of one another. Despite the prevalent correlation between the two disorders, few studies have been able to elucidate a mechanistic link. We demonstrate that forebrain specific Tsc1 deletion in mice causes epilepsy and autism-like behaviors, concomitant with disruption of 5-HT neurotransmission. We find that epileptiform activity propagates to the raphe nuclei, resulting in seizure-dependent hyperactivation of mTOR in 5-HT neurons. To dissect whether mTOR hyperactivity in 5-HT neurons alone was sufficient to recapitulate an autism-like phenotype we utilized Tsc1flox/flox;Slc6a4-cre mice, in which mTOR is restrictively hyperactivated in 5-HT neurons. Tsc1flox/flox;Slc6a4-cre mice displayed alterations of the 5-HT system and autism-like behaviors, without causing epilepsy. Rapamycin treatment in these mice was sufficient to rescue the phenotype. We conclude that the spread of seizure activity to the brainstem is capable of promoting hyperactivation of mTOR in the raphe nuclei, which in turn promotes autism-like behaviors. Thus our study provides a novel mechanism describing how epilepsy can contribute to the development of autism-like behaviors, suggesting new therapeutic strategies for autism.
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8. Miller M, Young GS, Hutman T, Johnson S, Schwichtenberg AJ, Ozonoff S. {{Early pragmatic language difficulties in siblings of children with autism: implications for DSM-5 social communication disorder?}}. {J Child Psychol Psychiatry};2014 (Oct 15)
BACKGROUND: We evaluated early pragmatic language skills in preschool-age siblings of children with autism spectrum disorder (ASD), and examined correspondence between pragmatic language impairments and general language difficulties, autism symptomatology, and clinical outcomes. METHODS: Participants were younger siblings of children with ASD (high-risk, n = 188) or typical development (low-risk, n = 119) who were part of a prospective study of infants at risk for ASD; siblings without ASD outcomes were included in analyses. Pragmatic language skills were measured via the Language Use Inventory (LUI). RESULTS: At 36 months, the high-risk group had significantly lower parent-rated pragmatic language scores than the low-risk group. When defining pragmatic language impairment (PLI) as scores below the 10th percentile on the LUI, 35% of the high-risk group was identified with PLI versus 10% of the low-risk group. Children with PLI had higher rates of general language impairment (16%), defined as scores below the 10th percentile on the Receptive or Expressive Language subscales of the Mullen Scales of Early Learning, relative to those without PLI (3%), but most did not evidence general language impairments. Children with PLI had significantly higher ADOS scores than those without PLI and had higher rates of clinician-rated atypical clinical best estimate outcomes (49%) relative to those without PLI (15%). CONCLUSIONS: Pragmatic language problems are present in some siblings of children with ASD as early as 36 months of age. As the new DSM-5 diagnosis of Social (Pragmatic) Communication Disorder (SCD) is thought to occur more frequently in family members of individuals with ASD, it is possible that some of these siblings will meet criteria for SCD as they get older. Close monitoring of early pragmatic language development in young children at familial risk for ASD is warranted.
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9. Mood D, Shield A. {{Clinical use of the autism diagnostic observation schedule-second edition with children who are deaf}}. {Semin Speech Lang};2014 (Nov);35(4):288-300.
The Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) was administered to eight children who are deaf and who are native American Sign Language (ASL) users with previous autism spectrum disorder (ASD) diagnosis. Classification on two different module selection criteria was compared based on: (1) standardized administration rules (signs not counted as equivalent to words) and (2) commonly utilized clinical administration (sign language complexity treated equivalently to spoken language complexity). Differential module selection resulted in discrepant classification in five of the eight cases (63%) and suggests that ADOS-2 via standardized test administration may result in a failure to identify autism among children who are deaf with primary communication in ASL. Two of the eight children (25%) did not exceed the cutoff for an ASD classification on either module administered despite previous ASD diagnosis. Overall results suggest that caution should be used when utilizing the ADOS-2 with children who are deaf who primarily communicate using ASL.
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10. Radoeva PD, Coman IL, Salazar CA, Gentile KL, Higgins AM, Middleton FA, Antshel KM, Fremont W, Shprintzen RJ, Morrow BE, Kates WR. {{Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes}}. {Psychiatr Genet};2014 (Oct 16)
Velocardiofacial (VCFS; 22q11.2 deletion) syndrome is a genetic disorder that results from a hemizygous deletion of the q11.2 region on chromosome 22, and is associated with greatly increased risk for psychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia. There is emerging evidence for the involvement of catechol-O-methyltransferase (COMT) and proline dehydrogenase (oxidase) 1 (PRODH) in the psychiatric phenotype of individuals with VCFS. Here, we tested the hypothesis that PRODH and COMT are associated with ASD in youths with VCFS. We found that individuals with VCFS and the low-activity alleles of both PRODH and COMT (rs4819756A and rs4680A) were more likely to present with ASD as compared with individuals with VCFS and the high-activity alleles of these genes [P<0.05; odds ratio=6.0 (95% confidence interval=1.27-28.26; N=87)]. Our results suggest that PRODH and COMT may interact to contribute to the ASD phenotype in individuals with VCFS.
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11. Rybakowski F, Bialek A, Chojnicka I, Dziechciarz P, Horvath A, Janas-Kozik M, Jeziorek A, Pisula E, Piwowarczyk A, Slopien A, Sykut-Cegielska J, Szajewska H, Szczaluba K, Szymanska K, Urbanek K, Waligorska A, Wojciechowska A, Wroniszewski M, Dunajska A. {{[Autism spectrum disorders – epidemiology, symptoms, comorbidity and diagnosis]}}. {Psychiatr Pol};2014 (Jul-Aug);48(4):653-665.
In the new classification of American Psychiatric Association – DSM-5 – a category of autistic spectrum disorders (ASD) was introduced, which replaced autistic disorder, Asperger syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified. ASD are defined by two basic psychopathological dimensions: communication disturbances and stereotyped behaviors, and the diagnosis is complemented with the assessment of language development and intellectual level. In successive epidemiological studies conducted in 21 century the prevalence of ASD has been rising, and currently is estimated at 1% in general population. The lifetime psychiatric comorbidity is observed in majority of patients. The most common coexisting diagnoses comprise disorders ofanxiety-affective spectrum, and in about 1/3 of patients attention deficit/ hyperactivity disorders could be diagnosed. Prodromal symptoms of ASD may emerge before 12 months of life, however reliability of diagnosis at such an early age is poor. Several screening instruments, based on the parental and/or healthcare professional assessments may be helpful in ASD detection. However, structured interviews and observation schedules remain the gold standard of diagnosis.
12. Shield A. {{Preliminary findings of similarities and differences in the signed and spoken language of children with autism}}. {Semin Speech Lang};2014 (Nov);35(4):309-320.
Approximately 30% of hearing children with autism spectrum disorder (ASD) do not acquire expressive language, and those who do often show impairments related to their social deficits, using language instrumentally rather than socially, with a poor understanding of pragmatics and a tendency toward repetitive content. Linguistic abnormalities can be clinically useful as diagnostic markers of ASD and as targets for intervention. Studies have begun to document how ASD manifests in children who are deaf for whom signed languages are the primary means of communication. Though the underlying disorder is presumed to be the same in children who are deaf and children who hear, the structures of signed and spoken languages differ in key ways. This article describes similarities and differences between the signed and spoken language acquisition of children on the spectrum. Similarities include echolalia, pronoun avoidance, neologisms, and the existence of minimally verbal children. Possible areas of divergence include pronoun reversal, palm reversal, and facial grammar.
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13. Szarkowski A, Flynn S, Clark T. {{Dually diagnosed: a retrospective study of the process of diagnosing autism spectrum disorders in children who are deaf and hard of hearing}}. {Semin Speech Lang};2014 (Nov);35(4):301-308.
Utilizing a retrospective chart review of 30 children who have been dually diagnosed with hearing loss and autism spectrum disorders (ASDs), this study explores the process of arriving at the diagnosis of ASD in this population. Factors of interest include the age of ASD diagnosis in children who are deaf and hard of hearing, the types of professionals involved in making the diagnosis, and the measures used for assessment. Complications in the diagnostic process are highlighted.
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14. Szarkowski A, Mood D, Shield A, Wiley S, Yoshinaga-Itano C. {{A summary of current understanding regarding children with autism spectrum disorder who are deaf or hard of hearing}}. {Semin Speech Lang};2014 (Nov);35(4):241-259.
This article provides a consensus perspective based on the authors’ expertise and the limited available literature regarding our understanding of children with an autism spectrum disorder (ASD) who are deaf or hard of hearing (D/HH). The challenges in the accurate identification of an ASD in children who are D/HH, including red flags for a potential ASD and screening and assessment for ASD, are described in this article. Additionally, strategies to guide professionals in their communication about a possible ASD with families and to frame the need for expanding aspects of communication important for this group of children are suggested.
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15. Szczaluba K. {{[Diagnostics of the genetic causes of autism spectrum disorders – a clinical geneticist’s view]}}. {Psychiatr Pol};2014 (Jul-Aug);48(4):677-688.
Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.
16. Thompson N, Yoshinaga-Itano C. {{Enhancing the development of infants and toddlers with dual diagnosis of autism spectrum disorder and deafness}}. {Semin Speech Lang};2014 (Nov);35(4):321-330.
Children diagnosed with autism spectrum disorder (ASD) are often referred for audiological diagnostic evaluation. This article provides some strategies for preparing children for a successful diagnostic evaluation. Children who are deaf or hard of hearing with a dual diagnosis of ASD may have difficulty learning to demonstrate detection or imitation of the Ling 6 sounds. The Ling 6 sounds are used to determine what a child with a dual diagnosis can hear and discriminate with amplification (hearing aids or cochlear implants). Because children with ASD may not look at the conversational partner and may have difficulty with imitation, adaptive strategies may be necessary to teach these children with dual diagnosis their first words. Strategies for teaching children with dual diagnosis through sign language will also be discussed.
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17. Thrasher A. {{Video modeling for children with dual diagnosis of deafness or hard of hearing and autism spectrum disorder to promote peer interaction}}. {Semin Speech Lang};2014 (Nov);35(4):331-342.
This article describes an intervention program offered at the University of Colorado Boulder that supports peer interaction among young children with autism spectrum disorders and their typical peers using a multicomponent approach, including video modeling. Characteristics of autism that may interfere with the development of peer interaction in young children will be discussed. Components of the approach will be described and the evidence base for the application of these components examined in regards to children with autism and for the potential application to children with the dual diagnosis of autism and deafness or hard of hearing.
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18. Thurman AJ, McDuffie A, Kover ST, Hagerman R, Channell MM, Mastergeorge A, Abbeduto L. {{Use of Emotional Cues for Lexical Learning: A Comparison of Autism Spectrum Disorder and Fragile X Syndrome}}. {J Autism Dev Disord};2014 (Oct 16)
The present study evaluated the ability of males with fragile X syndrome (FXS), nonsyndromic autism spectrum disorder (ASD), or typical development to learn new words by using as a cue to the intended referent an emotional reaction indicating a successful (excitement) or unsuccessful (disappointment) search for a novel object. Performance for all groups exceeded chance-levels in both search conditions. In the Successful Search condition, participants with nonsyndromic ASD performed similarly to participants with FXS after controlling for severity of ASD. In the Unsuccessful Search condition, participants with FXS performed significantly worse than participants with nonsyndromic ASD, after controlling for severity of ASD. Predictors of performance in both search conditions differed between the three groups. Theoretical and clinical implications are discussed.
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19. Tudor ME, Lerner MD. {{Intervention and Support for Siblings of Youth with Developmental Disabilities: A Systematic Review}}. {Clin Child Fam Psychol Rev};2014 (Oct 15)
Both the population of siblings of youth with developmental disabilities (DDs) and the popularity of clinical services designed for these youth are on the rise. However, the research base for such services has yet to be evaluated. A systematic review of studies on intervention and support for siblings of youth with DDs was conducted in order to evaluate the current state of the literature and provide recommendations for research and practice. Sixteen articles were selected and reviewed in terms of their experimental design, participant characteristics, measurement, intervention or support group protocol, outcomes, and dissemination of findings. Results indicate substantial variability in both methodology and outcomes across sibling-focused intervention and support group studies, which put the overall effects and utility of these services into question. Recommendations for future research are outlined, with a focus on advancing a more systematic and careful approach to asking and effectively answering questions about siblings, their families, and meaningful services for both.
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20. Wiley S, Innis H. {{Supporting families of children who are deaf or hard of hearing with an autism spectrum disorder}}. {Semin Speech Lang};2014 (Nov);35(4):260-265.
Families of children who are deaf or hard of hearing (Deaf/HH) with an autism spectrum disorder (ASD) experience many frustrations and challenges in the identification of ASD, accessing supports and services to address all of their child’s needs, and identifying networking and support opportunities with other families with children with similar needs. Professionals working with families are in a unique position to help navigate the often disconnected systems of services for children who are Deaf/HH and services for children with ASD. This article poses some possible strategies that professionals can implement in practice when working with children who are Deaf/HH with an ASD.
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21. Zielinska M, Sterczynski R, Baginska A. {{[The profile of WISC-R scores in children with high-functioning autism]}}. {Psychiatr Pol};2014 (Jul-Aug);48(4):667-676.
AIM: The aim of the study was to define the intellectual profile of Polish children suffering from autism. Our study was based on the results of previous research, mostly conducted in English-speaking countries. Although these earlier studies documented the intellectual profile of an autistic child, they also identified some discrepancies. Therefore, we decided to complement the discussion on autism with our data on intellectual functioning of autistic Polish children examined with a translated version of the intelligence test. METHODS: The study followed a matching design. From among 191 children with autism and 1 400 without this diagnosis, we selected 34 pairs based on gender and age, and not differing by more than 10 points in terms of intelligence quotient. The intellectual profile of the studied children was determined with the WISC-R scale. RESULTS: As expected, the intellectual profile of children with autism proved more variable than that of healthy controls. Children with autism scored lower on « Comprehension » scale and (at a threshold of statistical significance) on « Object assembly » scale, and achieved higher results on « Information » and « Block design » scales. CONCLUSIONS: The results of our study confirmed the most typical observations from previous research conducted among an English-speaking population of autistic children. Polish autistic children did not differ significantly in terms of their quotients of verbal and non-verbal intelligence. However, the intellectual profile of autistic children showed higher variance compared to normally developing controls. Children with autism were more likely to score the lowest in the « Comprehension » subtest and the highest in the « Block design » subtest.
