Deficits In Nonverbal Communication Research Articles

Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome

BackgroundThe 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail.MethodsThirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators.ResultsSubjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean = 11.36; nsASD mean = 15.70; p = 0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean = 1.73; nsASD mean = 3.63; p = 0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean = 43.89 months; nsASD mean = 37.86 months; p = 0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD.LimitationsThere were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects.Conclusions3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services.

The importance of nutritional management and education in the treatment of autism.

Autism spectrum disorders (ASDs) are an early-onset neurodevelopmental disorders. The key symptoms of ASD include social deficits, verbal and non-verbal communication deficits, and restricted, repetitive patterns of behaviour, interests, or activities. Dietary patterns have been evidenced to be related to maternal nutritional status that might lead to different metabolic conditions, and maternal metabolic dysfunction has been observed to be associated with ASD. Furthermore growing evidence suggests that the gut microbiota has a role in the pathophysiology of ASD. Differences in composition of the gastrointestinal (GI) microbiota in children with ASD compared to unaffected siblings and/or healthy unrelated controls have been reported in various studies. The above-mentioned ASD factors and symptoms can be regulated by proper nutrition. The importance of nutrition and its possible impact on ASD patients is key to integral therapy. According to numerous research studies, various nutritional approaches succeeded in reducing the severity of patients' core ASD symptoms. The numerous options for diet that is used in the ASD therapy, as described in the scientific literature, are related to the problem of choosing an appropriate nutritional treatment. Each nutrition programme needs to be personalised and tailored to an individual patient. The aim of the paper is to review the available literature on dietary interventions in children with ASD and provide up-to-date evidence.

Adult Autism Subthreshold spectrum correlates to Post-traumatic Stress Disorder spectrum in patients with fibromyalgia.

Fibromyalgia (FM) is an increasingly prevalent disorder that usually shows a chronic course and a disappointing therapeutic response in which psychiatric features seem to play a relevant role. Most recently, the relationship between FM and Post-traumatic Stress Disorder (PTSD) has gained interest since several studies demonstrated a higher rate of PTSD, both full blown and partial, and Post-traumatic Stress spectrum symptoms. While the relationship between higher burden of autistic symptoms and PTSD is reported in literature, the relationship between FM and autism spectrum symptoms is still unexplored. In this study we investigated both post-traumatic and autistic spectrum in a sample of FM patients with the aim of exploring the relationships between these dimensions. One hundred and nineteen patients with FM, diagnosed according the American College of Rheumatology 2010 criteria, were consecutively enrolled at the Unit of Rheumatology, University of Pisa, Italy. Assessments included: the Trauma And Loss Spectrum-Self Report (TALS-SR), for the post-traumatic stress spectrum symptomatology, the Adult Autism Subthreshold spectrum (AdAS spectrum) for the assessment of subthreshold autism spectrum. The scores reported to AdAS (total and per domain) by the entire sample and subgroups with PTSD diagnosis, partial PTSD and no PTSD were compared in order to detect a relation between Autistic Traits (ATs) and post-traumatic spectrum in this clinical sample. Our results show that FM patients with PTSD report an AdAS total score significantly higher than those reported by patients without PTSD. Moreover, through an examination of the correlation between AdAS spectrum and TALS-SR scores, significant correlations between the total score of the two instruments has emerged. The correlation resulted to be particularly significant between TALS-SR scores and non-verbal communication domain of the AdAS and between hyper-hypo reactivity to sensory input domain and several TALS-SR domains. These results highlight the clinical relevance of autistic traits in FM patients with PTSD. In this regard, we may claim a potential role of abnormal processing of sensory input and deficits in non-verbal communication in explaining this association.

Influence of siblings on adaptive behavior trajectories in autism spectrum disorder.

Siblings have the potential to shape the developmental trajectories of individuals with autism spectrum disorder. Having siblings has been associated with better social communication skills, less severe non-verbal communication deficits, and improved theory of mind abilities in autism spectrum disorder. This study examined the influence of the presence of a sibling, participant's position in the birth order, gender of the closest-age sibling, and gender match of the sibling dyad on the rate of growth in adaptive skills from ages 9 to 26 years among individuals with autism spectrum disorder and individuals with a history of non-spectrum developmental disorders. While all participants showed consistent gains in adaptive skill development as a function of age, there was variability in rates of growth based on sibling constellation group membership. Participants with at least one sibling, regardless of other sibling constellation factors, experienced greater rates of growth in adaptive behavior trajectories from childhood to adulthood than participants with no siblings across both Black and White participants, although differences were magnified in Black participants. Furthermore, among participants with siblings, those with male closest-age siblings and those with gender-matched siblings, irrespective of birth order position, demonstrated the steepest growth patterns in adaptive functioning within their respective groups over the 17-year period. Results suggest that siblings may serve an important role in improving the adaptive functioning trajectories and overall outcomes of individuals with autism spectrum disorder.

A Review of the Efficacy of the Dietary Intervention in Autism Spectrum Disorder

BACKGROUND: Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with 1 in 68 children prevalence. The key symptoms of ASD include social deficits, verbal and non-verbal communication deficits, and restricted, repetitive patterns of behavior, interests, or activities. For unknown reasons, gastrointestinal symptoms are related to ASD. The aim of the current paper is to review the available literature on dietary interventions in children with ASD and provide up-to-date evidence. METHODS: Searches in online databases, using the search terms’ dietary intervention, “autism spectrum disorders,” and “autism” were conducted. The search targeted publications ranging from 2010 to 2020. RESULTS: Twenty-six studies with different study designs which evaluated the effectiveness of specific dietary interventions in children with ASD were included in our review. Several dietary interventions were of popular practice in the management of children with ASD, including elimination (gluten-/casein-free diet and oligoantigenic diet), modification (modified ketogenic diet), supplementation (minerals, vitamins, omega 3, and omega 6), and exclusion (food additives). Studies showed different results with varying degrees of evidence. Overall, data were inadequate to make accurate conclusions. CONCLUSION: There is little evidence to support the use of dietary interventions for children with ASD. Additional high-quality studies and further research are, therefore, needed.

Kognitivni i jezički deficiti kod osoba sa Parkinsonovom bolešću

Introduction. Contemporary research of Parkinson's disease increasingly emphasizes the importance of various non-motor signs, including cognitive and language deficits. This is a significant shift from previous research which focused primarily on the study of motor disorders. Objective. This article aims to systematically present and analyse contemporary empirical data on the presence of language and cognitive deficits in Parkinson's disease. Studies on the assessment and treatment of cognitive and language functions are also mentioned. Methods. Various electronic databases of Serbian libraries and specialized Internet search engines were used to search for relevant literature. Descriptive, analytic and synthetic methods were used. Results. The empirical data show that cognitive disorders can be observed in the initial stages of the disease and that they become more pronounced with disease progression. Cognitive deficits are manifested in the domains of executive functions, visuospatial abilities, attention, and memory. Studies devoted to the study of language testify to the manifestation of deficits in all language skills. Language and cognitive disorders, associated with dysarthria and deficits in nonverbal communication, negatively affect communication skills, and the patient's life quality. Conclusion. Cognitive decline in Parkinson's disease ranges from mild cognitive impairment to severe dementia. Language disorders are manifested in auditory comprehension, spontaneous speech, naming, repetition, discourse, reading, and writing. For treating cognitive and language deficits, a pharmacological and nonpharmacological approaches are used. The goal of speech-language therapy, as a part of nonpharmacological approach, is to slow down progression of cognitive and language disorders, maintain communicative abilities, and compensate for deficits.

Neural responses in autism during movie watching: Inter-individual response variability co-varies with symptomatology

Naturalistic movie paradigms are exquisitely dynamic by nature, yet dedicated analytical methods typically remain static. Here, we deployed a dynamic inter-subject functional correlation (ISFC) analysis to study movie-driven functional brain changes in a population of male young adults diagnosed with autism spectrum disorder (ASD). We took inspiration from the resting-state research field in generating a set of whole-brain ISFC states expressed by the analysed ASD and typically developing (TD) subjects along time.Change points of state expression often involved transitions between different scenes of the movie, resulting in the reorganisation of whole-brain ISFC patterns to recruit different functional networks. Both subject populations showed idiosyncratic state expression at dedicated time points, but only TD subjects were also characterised by episodes of homogeneous recruitment. The temporal fluctuations in both quantities, as well as in cross-population dissimilarity, were tied to contextual movie cues.The prominent idiosyncrasy seen in ASD subjects was linked to individual symptomatology by partial least squares analysis, as different temporal sequences of ISFC states were expressed by subjects suffering from social and verbal communication impairments, as opposed to nonverbal communication deficits and stereotypic behaviours. Furthermore, the temporal expression of several of these states was correlated with the movie context, the presence of faces on screen, or overall luminosity.Overall, our results support the use of dynamic analytical frameworks to fully exploit the information obtained by naturalistic stimulation paradigms. They also show that autism should be understood as a multi-faceted disorder, in which the functional brain alterations seen in a given subject will vary as a function of the extent and balance of expressed symptoms.

Assessment of knowledge and attitude of technical nursing school students regarding autistic children

Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in reciprocal social interactions, as well as verbal and nonverbal communication deficits, with repetitive and stereotyped behaviors. When nursing students have knowledge regarding ASDs, they will be able to refer children at risk for ASD for diagnostic evaluation and intervention at the earliest possible opportunity, and also, it will enhance their attitude toward autistic children. Aim To assess knowledge and attitude of technical nursing school students regarding autistic children. Research design A descriptive correlation research design was used to conduct this study. Sample All students who finished the 5 years of technical nursing school were included in this study, representing 110 students (according to the list obtained from the technical nursing school at academic year 2018–2019). The technical nursing school at Kaser Al Aini Hospital which is affiliated to Faculty of Medicine, Cairo University was the site of the study. Patients and methods The data were collected using two tools: the first one is a student self-administered questionnaire. This tool included (a) demographic characteristics of the technical nursing school students and (b) students’ knowledge. It included questions to assess the technical nursing school students’ knowledge toward autistic children. The second tool is a technical nursing school students’ attitude scale toward autistic children. Results The mean age of the studied technical nursing students was 21.00. Most of them (90.9%) were single. There were statistically significant relations between their total level of knowledge and their level of attitude (P>0.001). There was a positive correlation between the technical nursing school students’ total score of knowledge and their total score of attitude regarding autistic children (P>0.01). Conclusion The study concluded that 45.5% of the technical nursing school students had satisfactory knowledge regarding autistic children. Overall, 76.4% of them had positive attitude regarding autistic children. Recommendations The study recommended introduction of autistic disease lecture in the curriculum of technical nursing school students from the first year and development of clinical protocols that can assist the technical nursing school students in care of autistic children positively.

No effect of prenatal vitamin D deficiency on autism-relevant behaviours in multiple inbred strains of mice

Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders commonly characterised by verbal and non-verbal communication deficits, impaired social interaction and repetitive, stereotypic behaviours. The aetiology of ASD is most likely a combination of genetic and environmental factors. Epidemiological evidence suggests that prenatal vitamin D deficiency is associated with an increased incidence of ASD. The overall aim of this study was to investigate prenatal vitamin D deficiency on ASD-related behavioural phenotypes in multiple inbred strains of mice. We included two commonly used inbred mouse strains (C57BL/6J and BALB/c) as well as inbred BTBR mice, which show ASD-related behaviours, such as excessive self-grooming, hyperlocomotion, social interaction deficits and altered communication. We also studied the effect of prenatal vitamin D deficiency in a fourth strain; an F1 cross of C57BL/6J x BTBR mice, which have a partial BTBR phenotype. To implement prenatal vitamin D deficiency, female mice were placed on vitamin D deplete diets for ten weeks, including mating and gestation, until littering, when all dams were switched to the control diet. Behavioural symptoms related to ASD were measured, including isolation-induced ultrasonic vocalisations to measure communication, the three-chambered social interaction task to observe social interaction, the open field test to examine hyperlocomotion, assessment of grooming and rearing behaviour and finally the active place avoidance task to observe spatial learning and memory in response to a mild foot shock. Prenatal vitamin D deficiency had a negative impact on preference for social novelty in C57BL/6J mice, despite similar vocalisation phenotypes, and prenatal vitamin D-deficient F1 mice were found to be hypolocomotive in the open field test yet performed better on the active place avoidance task. Despite clear differences between strains, there were no other consistent significant main effects of maternal diet on the behaviour of the offspring. Vitamin D deficiency has been implicated as a risk factor for ASD and these data show that there is greater variation between different inbred strains in ASD-related behaviour, suggesting that prenatal vitamin D deficiency is not sufficient to recapitulate an ASD phenotype in multiple inbred strains of mice.

Relationship Strain Parkinson's Disease! Gender-Specific Distress of Partners of Patients with Parkinson's Disease

A Parkinson's disease is attended by high strain for the patients and an obvious loss of relationship functioning. Partners of patients (N=110) were evaluated via self-assessment in terms of own depression (PHQ-9), own fear of progression (PA-F-P-KF), relationship quality (PFB) as well as perceived deficits in everyday life and nonverbal communication. 26% of women and 11% of men showed depression scores, 51% of women and 41% of men dysfunctional fear of progression and about 60% were unsatisfied with their relationship. Gender-specific differences regarding the severity of the symptoms and their distress occurred. The severity of symptoms was estimated highest by spouses of male patients with Parkinson's disease, whereas female spouses showed higher psychological distress than male spouses. Moreover, restrictions of everyday life were associated with depression (r=0.40, p<0.05), fear of progression (r=0.40, p<0.05) und relationship quality (r=-0.52, p<0.05) as well as deficits in nonverbal communication with depression (r=0.37, p<0.05), fear of progression (r=0.27, p<0.05) und relationship quality (r=-0.49, p<0.05). Regression analysis to predict relationship quality explained 46% of the variance. As significant predictors emerged cognitive deficits in everyday life, lacking eye contact, physical mobility and pain. Due to the high association of relationship quality and restrictions through the Parkinson's disease, interventions with couples were discussed.

Genomic and genetic studies in autism spectrum disorders

The primary manifestations of autism spectrum disorders are deficits in social and emotional reciprocity, deficits in non-verbal communication; an additional manifestation is the occurrence of restrictive repetitive patterns of behavior

Early Signs

Early Signs

Gesture development in toddlers with an older sibling with autism.

Nonverbal communication deficits are characteristic of autism spectrum disorder (ASD) and have been reported in some later-born siblings of children with ASD (heightened-risk (HR) children). However, little work has investigated gesture as a function of language ability, which varies greatly in this population. This longitudinal study characterizes gesture in HR children and examines differences related to diagnostic outcome (ASD, language delay, no diagnosis) and age. We coded communicative gesture use for 29 HR children at ages 2 and 3 years during interactions with a caregiver at home. Children in the ASD group produced fewer gestures than their HR peers at 2 years, though large individual differences were observed within each subgroup at both ages. In addition, reliance on particular types of gestures varied with age and outcome. Both ASD and language delay children exhibited a pattern of reduced pointing relative to their no diagnosis peers. Similarities and differences exist between communication in HR infants with language delay and their HR peers, reinforcing our understanding of links between verbal and nonverbal communication in populations at risk for language delay.

V8. Structural alteration of the praxis network were associated with poor gesture performance in schizophrenia patients

Background Schizophrenia is associated with poor nonverbal communication. Impairments in the performance of hand gestures have been shown in 67% of patients with schizophrenia. These deficits are similar to those seen in Apraxia, which is often due to lesions in the inferior parietal (IPL) lobe, insula and inferior frontal gyrus (IFG). In Schizophrenia however, the neural correlates are unknown. Therefore, we investigated structural correlates of impaired gesture performance in schizophrenia. Methods In 43 patients with schizophrenia spectrum disorders, gesture performance was assessed by the comprehensive Test of Upper Limb Apraxia (TULIA). Performance was video recorded and blindly rated for accuracy. Structural brain imaging was measured in all patients using a 3-T MR Scanner. Grey matter density was correlated with TULIA scores using Whole-Brain Voxel-Based Morphometry (VBM) and total intracranial volume as covariate. White matter integrity was correlated with TULIA scores using Tract-Based Spatial Statistics (TBSS) and age as covariate. Results The TULIA total score correlated with grey matter density in several clusters of the praxis network at p p Conclusions Aberrant brain structure is associated with poor gesture performance in schizophrenia. Particularly in key regions of the praxis network, i.e. insula, parietal cortex, we detected correlations of gesture performance and grey and white matter markers. In addition, the anterior cingulate cortex grey matter was correlated to gesture performance, a region implicated in action planning and control. Therefore, specific brain structural alterations may contribute to deficits in nonverbal communication in schizophrenia ( Fig. 1 ).

Assessing Change in Core Autism Symptoms: Challenges for Pharmacological Studies

[Author Affiliation]Michael G. Aman. The Nisonger Center UCEDD, Ohio State University, Columbus, Ohio.L. Eugene Arnold. The Nisonger Center UCEDD, Ohio State University, Columbus, Ohio.Jill A. Hollway. The Nisonger Center UCEDD, Ohio State University, Columbus, Ohio.Address correspondence to: Michael G. Aman, PhD, Professor Emeritus of Psychology, The Nisonger Center (OCEDD) Ohio State University, 1581 Dodd Drive, Columbus, Ohio 43210, E-mail: Michael.Aman@osumc.eduThese days, there is considerable interest in attempts to treat certain developmental disabilities pharmacologically. In this discussion, we periodically step outside the fields of psychopharmacology or autism to see what lessons can be learned for the study of core autism features. If we explore Clinicaltrials.gov, we see approximately 20 studies underway or recently completed among patients with autism spectrum disorder (ASD), Down syndrome, or Fragile X syndrome.Recently, we completed a small trial of mecamylamine in children with autism and pervasive developmental disorder not otherwise specified (Arnold et al., 2012). This trial was the occasion for reflections on the issue of how to measure change in the core symptoms of autism in the context of pharmacological intervention. The purpose of this editorial is to make some observations, pose questions, and offer some suggestions regarding the measurement of ASD core symptoms. We also comment on the clinical and research context in which such investigations must take place.Autism Spectrum Disorder as a Developmental Disability: Implications for PharmacotherapyASD is a neurodevelopmental disorder--i.e., it becomes evident in the course of development, usually within the first three years of life. As a developmental disability, we see three areas of profound social impairment involving failure to develop normally. First, there are profound deficits in social-emotional reciprocity (APA, 2013). The Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5), gives the following examples of deficits in social and emotional reciprocity: Poor social approach, failure to engage in reciprocal conversations, reduced sharing of thoughts, experiences, and emotions. Second, there are deficits in nonverbal communication, including the ability to integrate gesture, eye contact, facial expressions, and body language when communicating with others. Third, there are deficits in the development and understanding of relationships, which may include a lack of interest in others and lack of joint interactive imaginative play (APA, 2013). Also included in the diagnostic criteria are behavioral excesses encompassing restricted, repetitive, or narrow patterns of behaviors and interests, including repetitive physical movements or speech, insistence on sameness or routines, narrow or fixated interests, and odd reactions (often increased or muted) to sensory aspects of the environment.The key issue here is that these developmental deficits suggest months and (usually) years of failure to develop and progress at normal rates. When practiced in the general population, the field of psychopharmacology tends to focus on recovery to the premorbid status (i.e., on reversible symptoms, such as major depression or significant anxiety disorder). In the case of ASD, there is usually no premorbid period in which patients had essentially normal behavior or development, unless we count the first months of life before the problems are noted. The study participants have not stored up the relevant developmental information to be released later with the onset of successful pharmacotherapy. Hence, true therapeutic success for individuals with ASD is likely to require months or even years to reach the patient's new adaptive level. This has obvious implications for pharmacological trials, including matters related to duration of the trial, ideal age of the participants (younger children may be more plastic than older adults), and therapeutic medium in which participants are embedded (e. …

Pilot assessment of nonverbal pragmatic ability in people with asperger syndrome

Abstract The purpose of this study is to present a diagnostic tool to assess the nonverbal pragmatic behaviors of people with Asperger syndrome, with the intent to give an account of the severity of symptoms in the area of nonverbal interaction, as well as providing a profile of nonverbal behaviors that may be targeted for intervention. Through this communication profile, overall nonverbal ability is calculated in a group of 20 subjects with Asperger syndrome. The proposed scale also includes the measurement of the following nonverbal dimensions: (1) eye gaze, (2) facial expression, (3) body language and posture, (4) proxemics, (5) gestures, and (6) paralanguage. The results of this assessment suggest low nonverbal pragmatic ability in these subjects, show specific deficits in nonverbal communication, and capture variability in nonverbal behavior in individuals with AS.

Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil

Evidence of enhanced oxidative stress (O.S.) and lipid peroxidation has been reported in patients with Rett syndrome (RTT), a relatively rare neurodevelopmental disorder progressing in 4-stages, and mainly caused by loss-of-function mutations in the methyl-CpG-binding protein 2. No effective therapy for preventing or arresting the neurologic regression in the disease in its various clinical presentations is available. Based on our prior evidence of enhanced O.S. and lipid peroxidation in RTT patients, herein we tested the possible therapeutic effects of ω-3 polyunsaturated fatty acids (ω-3 PUFAs), known antioxidants with multiple effects, on the clinical symptoms and O.S. biomarkers in the earliest stage of RTT. A total of 20 patients in stage I were randomized (n=10 subjects per arm) to either oral supplementation with ω-3 PUFAs-containing fish oil (DHA: 72.9±8.1mg/kg b.w./day; EPA: 117.1±13.1mg/kg b.w./day; total ω-3 PUFAs: 246.0±27.5mg/kg b.w./day) for 6months or no treatment. Primary outcomes were potential changes in clinical symptoms, with secondary outcomes including variations for five O.S. markers in plasma and/or erythrocytes (nonprotein bound iron, F(2)-dihomo-isoprostanes, F(3)-isoprostanes, F(4)-neuroprostanes, and F(2)-isoprostanes). A significant reduction in the clinical severity (in particular, motor-related signs, nonverbal communication deficits, and breathing abnormalities) together with a significant decrease in all the examined O.S. markers was observed in the ω-3 PUFAs supplemented patients, whereas no significant changes were evidenced in the untreated group. For the first time, these findings strongly suggest that a dietary intervention in this genetic disease at an early stage of its natural history can lead to a partial clinical and biochemical rescue.

QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders

Autism Spectrum Disorder (ASD) has a heterogeneous etiology that is genetically complex. It is defined by deficits in communication and social skills and the presence of restricted and repetitive behaviors. Genetic analyses of heritable quantitative traits that correlate with ASD may reduce heterogeneity. With this in mind, deficits in nonverbal communication (NVC) were quantified based on items from the Autism Diagnostic Interview Revised. Our previous analysis of 228 families from the Autism Genetics Research Exchange (AGRE) repository reported 5 potential quantitative trait loci (QTL). Here we report an NVC QTL replication study in an independent sample of 213 AGRE families. One QTL was replicated (P<0.0004). It was investigated using a targeted-association analysis of 476 haplotype blocks with 708 AGRE families using the Family Based Association Test (FBAT). Blocks in two QTL genes were associated with NVC with a P-value of 0.001. Three associated haplotype blocks were intronic to the Nerve Growth Factor (NGF) gene (P=0.001, 0.001, 0.002), and one was intronic to KCND3 (P=0.001). Individual haplotypes within the associated blocks drove the associations (0.003, 0.0004 and 0.0002) for NGF and 0.0001 for KCND3. Using the same methods, these genes were tested for association with NVC in an independent sample of 1517 families from an Autism Genome Project (AGP). NVC was associated with a haplotype in an adjacent NGF block (P=0.0005) and one 46 kb away from the associated block in KCND3 (0.008). These analyses illustrate the value of QTL and targeted association studies for genetically complex disorders such as ASD. NGF is a promising risk gene for NVC deficits.

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

We report autism in 3 out of 53 children with cystic or hyperechogenic kidneys and heterozygous 17q12 region deletion encompassing hepatocyte nuclear factor-1beta (HNF1B). They presented mental retardation, social interaction impairments, verbal and non-verbal communication deficits and stereotyped behaviours. Deletion size and location of breakpoints were similar to those reported in patients with renal disease/diabetes only. Reciprocal genomic rearrangements of the 17q12 region, reported in patients with mental retardation and epilepsy, could also be involved in autism. Nephrologists should be aware of the possibility of autism in patients with 17q12 deletion including HNF1B locus.

Early detection of autism spectrum disorders: Screening between 12 and 24 months of age

The purpose of this article is to present nurse practitioners (NPs) with information on screening for autism spectrum disorders (ASDs) in children between 12 and 24 months of age. Recommendations are also provided for appropriate referrals and initiation of early intervention (EI). Review of published literature about ASD. Children with ASD exhibit impaired social interaction, verbal and nonverbal communication deficits, and repetitive, restricted, and stereotyped patterns of behavior or interests. Studies show that these children benefit from beginning intensive EI as soon as possible. Early detection enables children with suspected ASD to be evaluated by specialists and entered into treatment programs at the earliest possible opportunity. Because of the importance of early diagnosis of ASD, it is critical that NPs use established screening instruments to maximize time and increase the reliability of the assessment.