Characterizing individual differences in children and adolescents with autism spectrum disorder: a descriptive study.

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by a higher prevalence in male than in female participants. Recent studies have hypothesized the presence of different phenotypes in male and female participants with ASD. The present study aims to assess possible sex differences in cognitive and adaptive functioning, symptomatology of ASD, and psychopathological comorbidities in a large sample of children and adolescents with ASD. Methods: The study included a total of 2,146 children and adolescents diagnosed with ASD, comprising 1785 boys (mean age 7.12 ± 3.69 years) and 361 girls (mean age 6.25 ± 3.30 years). The age of the participants ranged from 1.35 to 19.05 years (mean age 9.98 ± 3.64). The study sought to include all children and adolescents diagnosed with Autism or ASD. Results: Present results showed that girls with ASD had lower IQs than boys but similar adaptive functioning. The severity of symptoms of ASD was greater in boys than in girls, as were scores on psychopathological measures. With increasing age, boys with ASD showed greater impairment in social communication skills than girls and increased psychopathological comorbidities. Older girls showed fewer restricted and repetitive behaviors. Discussion: Exploring phenotypic differences in children and adolescents with ASD fosters an understanding of subtle diagnostic facets that may go unrecognized, allowing for increasingly individualized and tailored interventions.

Low back pain patients with Modic type 1 changes exhibit distinct bacterial and non-bacterial subtypes.

Objectives: Modic type 1 changes (MC1) are vertebral endplate bone marrow (BM) lesions observed on magnetic resonance images in sub-populations of chronic low back pain (CLBP) patients. The etiopathogenesis remains unknown and treatments that modify the underlying pathomechanisms do not exist. We hypothesized that two biological MC1 subtypes exist: a bacterial and a non-bacterial. This would have important implications for developing treatments targeting the underlying pathomechanisms. Methods: Intervertebral disc (IVD) samples adjacent to MC1 (n â€‹= â€‹34) and control (n â€‹= â€‹11) vertebrae were collected from patients undergoing spinal fusion. Cutibacterium acnes (C.acnes) genome copy numbers (GCNs) were quantified in IVD tissues with 16S qPCR, transcriptomic signatures and cytokine profiles were determined in MC1 and control BM by RNA sequencing and immunoassay. Finally, we assessed if C.acnes GCNs are associated with blood plasma cytokines. Results: IVD tissues from control levels had <870 â€‹C.acnes GCNs/gram IVD. MC1-adjacent IVDs had either "low" (<870) or "high" (>870) C.acnes GCNs. MC1 patients with "high" C.acnes GCNs had upregulated innate immune cell signatures (neutrophil, macrophage/monocyte) and pro-inflammatory cytokines related to neutrophil and macrophage/monocyte function in the BM, consistent with a host defense against bacterium. MC1 patients with "low" C.acnes GCNs had increased adaptive immune cell signatures (T-and B-cell) in the BM and elevated IL-13 blood plasma levels. Conclusion: Our study provides the first evidence for the existence of bacterial (C.acnes "high") and non-bacterial (C.acnes "low") subtypes in MC1 patients with CLBP. This supports the need for different treatment strategies.

The influence of Generalized Anxiety Disorder on Executive Functions in children with ADHD.

The present study was aimed at verifying whether the presence of generalized anxiety disorder (GAD) affects executive functions in children with attention-deficit hyperactivity disorder (ADHD). Two groups of children with ADHD were selected for the study according to the presence or absence of GAD. The first group of 28 children with ADHD with GAD (mean age: 9 ± 1.2; males/females: 24/4) was matched for gender, age, IQ, psychiatric comorbidity with a second group of 29 children with ADHD without GAD (mean age: 8.8 ± 0.7; males/females: 26/3). The two groups with ADHD were compared to 28 typically developing children (mean age: 8.3 ± 1.3; males/females: 23/5) on different measures involving processes especially important in inhibitory control such as rule maintenance, stimulus detection, action selection and action execution. Our results indicated that, differently from children with ADHD with GAD, only the group with ADHD without GAD showed a deficit in inhibitory control. Comorbid subgroups should be differentiated, especially, to develop specific and efficient therapeutic interventions in ADHD.

A comparison between linguistic skills and socio-communicative abilities in Williams syndrome.

BACKGROUND: Individuals with Williams syndrome (WS) show a disharmonic linguistic profile with a clear pattern of strengths and weaknesses. Despite their sociable nature, atypical socio-communicative abilities and deficits in communication and relationship with others have been found. AIM: The aim of the present study was to investigate whether linguistic skills (LS) were in line with the pragmatic and social use of language and the cognitive development of 32 individuals with WS (18 boys and 14 girls) with a mean chronological age of 12.3 (±4.4) years. To examine the relationship between language and mental age (MA) at different ages, the issue was investigated in children and adolescents/young adults with WS. METHOD: Measures of LS, including lexical and morphosyntactic competences, and adaptive socio-communicative abilities (ASCA), pertaining to the use of language in daily living social context, were compared with the MA of participants. In a second step, participants with WS were split into two subgroups based on age, and the relationship between LS, ASCA and MA was studied. RESULTS: Although expressive and receptive LS were generally found to be in line with or better than would be expected for MA, specific deficits in receptive ASCA were documented. LS and ASCA appeared to have a different evolution during the different time windows considered. CONCLUSIONS: Our results underlined the importance of assessing linguistic abilities in the context of adaptive functioning, to guide educational and rehabilitative strategies for individuals with WS.

Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome.

Ventral and dorsal streams are visual pathways deputed to transmit information from the photoreceptors of the retina to the lateral geniculate nucleus and then to the primary visual cortex (V1). Several studies investigated whether one pathway is more vulnerable than the other during development, and whether these streams develop at different rates. The results are still discordant. The aim of the present study was to understand the functionality of the dorsal and the ventral streams in two populations affected by different genetic disorders, Noonan syndrome (NS) and 22q11.2 deletion syndrome (22q11.2DS), and explore the possible genotype-phenotype relationships. 'Form coherence' abilities for the ventral stream and 'motion coherence' abilities for the dorsal stream were evaluated in 19 participants with NS and 20 participants with 22q11.2DS. Collected data were compared with 55 age-matched controls. Participants with NS and 22q11.2DS did not differ in the form coherence task, and their performance was significantly lower than that of controls. However, in the motion coherence task, the group with NS and controls did not differ, and both obtained significantly higher scores than the group with 22q11.2DS. Our findings indicate that deficits in the dorsal stream are related to the specific genotype, and that in our syndromic groups the ventral stream is more vulnerable than the dorsal stream.

Explorative function in Prader-Willi syndrome analyzed through an ecological spatial task.

This study was aimed at evaluating the spatial abilities in individuals with Prader-Willi syndrome (PWS) by using an ecological large-scale task with multiple rewards. To evaluate the extent of spatial deficit in PWS individuals, we compare their performances with those of individuals with Williams Syndrome (WS) in which the spatial deficits have been widely described. Participants had to explore an open space to search nine rewards placed in buckets arranged according to three spatial configurations: a Cross, a 3×3 Matrix and a Cluster composed by three groups of three buckets each. PWS individuals exhibited an explorative deficit in Cluster and Cross configurations, while WS participants in Matrix and Cross configurations. The findings indicate that the structural affordances of the environment influence the explorative strategies and can be related to how spatial information is processed.

Implicit learning in individuals with autism spectrum disorders: a meta-analysis.

BACKGROUND: Individuals with autism spectrum disorders (ASDs) are characterized by social communication difficulties and behavioural rigidity. Difficulties in learning from others are one of the most devastating features of this group of conditions. Nevertheless, the nature of learning difficulties in ASDs is still unclear. Given the relevance of implicit learning for social and communicative functioning, a link has been hypothesized between ASDs and implicit learning deficit. However, studies that have employed formal testing of implicit learning in ASDs provided mixed results. METHOD: We undertook a systematic search of studies that examined implicit learning in ASDs using serial reaction time (SRT), alternating serial reaction time (ASRT), pursuit rotor (PR), and contextual cueing (CC) tasks, and synthesized the data using meta-analysis. A total of 11 studies were identified, representing data from 407 individuals with ASDs and typically developing comparison participants. RESULTS: The results indicate that individuals with ASDs do not differ in any task considered [SRT and ASRT task: standardized mean difference (SMD) -0.18, 95% confidence interval (CI) -0.71 to 0.36; PR task: SMD -0.34, 95% CI -1.04 to 0.36; CC task: SMD 0.27, 95% CI -0.07 to 0.60]. CONCLUSIONS: Based on our synthesis of the existing literature, we conclude that individuals with ASDs can learn implicitly, supporting the hypothesis that implicit learning deficits do not represent a core feature in ASDs.

Learning by observation in children with autism spectrum disorder.

BACKGROUND: Observing another person performing a complex action accelerates the observer's acquisition of the same action and limits the time-consuming process of learning by trial and error. Learning by observation requires specific skills such as attending, imitating and understanding contingencies. Individuals with autism spectrum disorder (ASD) exhibit deficits in these skills. METHOD: The performance of 20 ASD children was compared with that of a group of typically developing (TD) children matched for chronological age (CA), IQ and gender on tasks of learning of a visuomotor sequence by observation or by trial and error. Acquiring the correct sequence involved three phases: a detection phase (DP), in which participants discovered the correct sequence and learned how to perform the task; an exercise phase (EP), in which they reproduced the sequence until performance was error free; and an automatization phase (AP), in which by repeating the error-free sequence they became accurate and speedy. RESULTS: In the DP, ASD children were impaired in detecting a sequence by trial and error only when the task was proposed as first, whereas they were as efficient as TD children in detecting a sequence by observation. In the EP, ASD children were as efficient as TD children. In the AP, ASD children were impaired in automatizing the sequence. Although the positive effect of learning by observation was evident, ASD children made a high number of imitative errors, indicating marked tendencies to hyperimitate. CONCLUSIONS: These findings demonstrate the imitative abilities of ASD children although the presence of imitative errors indicates an impairment in the control of imitative behaviours.

Proactive and reactive control of movement are differently affected in Attention Deficit Hyperactivity Disorder children.

Attention-Deficit/Hyperactivity Disorder children are impaired in the ability to interrupt an ongoing action in relation to a sudden change in the environment (reactive control, measured by stop signal reaction time, SSRT). Less investigated is the ability to control the response when it is known in advance that it will be required to stop (proactive control, measured by change in Reaction time, RT). The study is aimed at exploring both the reactive and the proactive inhibitory control in a group of ADHD children compared to a group of age-matched controls. ADHD children (N=28) and Controls (N=28) performed 4 tasks: 2 tasks required to respond to the appearance of the go-signals (go task and nostop task) and 2 tasks to respond to the go signals in a context in which sometimes a restrain or suppression of the response was required (go-nogo task and stop task). ADHD children showed a longer SSRT compared to controls. Both groups showed an increment in RT by comparing the go-nogo to the go task and an increment in RT and SD by comparing the stop to the nostop task. ADHD children showed higher intra-individual variability (SD) compared to controls only in the stop and nostop task. ADHD children showed impaired reactive control but preserved proactive control, and the physical appearance of the go signal affected their reaction times intra-individual variability. A comparison between the reactive and proactive controls helps in defining neuropsychological profiles of ADHD children and can inspires therapeutic behavioral-cognitive strategies for response control.

Explorative function in Williams syndrome analyzed through a large-scale task with multiple rewards.

This study aimed to evaluate spatial function in subjects with Williams syndrome (WS) by using a large-scale task with multiple rewards and comparing the spatial abilities of WS subjects with those of mental age-matched control children. In the present spatial task, WS participants had to explore an open space to search nine rewards placed in buckets arranged according to three spatial configurations: a cross, a 3 × 3 matrix and a cluster composed by three groups of three buckets each. The findings demonstrate that WS individuals were impaired in efficiently exploring the environment and in building cognitive spatial maps. In exploring the three spatial configurations, they performed worse than control subjects on all parameters analyzed. In fact, WS individuals took more time to complete the task, made more errors, performed a reduced number of error-free trials, displayed lower search efficiency, exhibited shorter spatial spans, showed a higher number of no-visits and displayed marked tendencies to perseverate and to neglect some buckets. Furthermore, WS individuals showed disorganized explorative patterns in comparison to control children. WS influenced performances differentially as a specific effect of the susceptibility of the configurations to being explored in a principled way. In the cross configuration that had strong spatial constraints, both groups exhibited their worst performances. In the matrix configuration, the altered explorative strategies of the WS subjects primarily affected their central exploration. The performances in the cluster configuration indicated that chunking was a strategy of strength in both TD and WS groups. In conclusion, WS individuals' deficits exhibited in the present explorative test may be considered an index of their difficulties in spatial orientation and motion perception displayed in the real world. The marked impairment in spatial information processing is discussed in neuro-anatomical alterations reported in WS.

Executive functions in individuals with Williams syndrome.

BACKGROUND: The present study was aimed at investigating working memory (WM) and executive functions capacities in individuals with Williams syndrome (WS) as compared with mental-age matched typically developing (TD) children. METHOD: In order to serve the study goal, a sizeable battery of tasks tapping WM as well as attention, memory, planning, categorisation, shifting and inhibition abilities was administered to 15 individuals with WS (mean chronological age of 19.11 and mean mental age of 6.10), and to a group of 15 TD children (mean chronological age of 7.6 and mean mental age of 6.9). RESULTS: Participants with WS showed deficits in both verbal and visual-spatial modalities for selective and sustained attention, short-term memory and WM, planning and inhibition. However, considering categorisation and shifting abilities, relatively unimpaired performance emerged on those tasks relying on verbal materials. CONCLUSIONS: These findings are both relevant to improve our knowledge about certain qualitative aspects of the anomalous cognitive development in WS as well as for its eventual clinical implications.

Different underlying neurocognitive deficits in developmental dyslexia: a comparative study.

The aim of this study was to investigate the role of several specific neurocognitive functions in developmental dyslexia (DD). The performances of 60 dyslexic children and 65 age-matched normally reading children were compared on tests of phonological abilities, visual processing, selective and sustained attention, implicit learning, and executive functions. Results documented deficits in dyslexics on both phonological and non-phonological tasks. More stringently, in dyslexic children individual differences in non-phonological abilities accounted for 23.3% of unique variance in word reading and for 19.3% in non-word reading after controlling for age, IQ and phonological skills. These findings are in accordance with the hypothesis that DD is a multifactorial deficit and suggest that neurocognitive developmental dysfunctions in DD may not be limited to the linguistic brain area, but may involve a more multifocal cortical system.

Children' s radial arm maze performance as a function of age and sex.

The present study analyzes the development of the spatial abilities in children aged 36-95 months and the sex-related differences by means of the free-choice and forced-choice paradigms of the eight-arm radial maze task. Clear age-related improvements were evidenced. However, a temporal window with an abrupt acceleration of specific spatial competencies acquisition was detected. The females aged 51-58 months started the task performing about 2.5 errors and ended it performing no more than 0.5 errors. The same pattern of performance was exhibited by the males aged 59-66 months. Also in the final span the 4.5-year-old females behave as the 6-year-old males. The significant correlations between 45 degrees angles and span values in the free-choice paradigm indicated that all children tended to solve the task by employing low working memory load and by using mainly efficient procedural strategies. Furthermore, children's ability to retain earlier information was influenced by both age and sex factors as indicated by the forced-choice paradigm findings. The present findings demonstrating the earlier acquisition of spatial competencies of the females in comparison to males, could reflect differences in foraging strategies between sexes, and/or differences in the anatomo-physiological development of specific brain structures, and/or different modulating effects of sexual hormones.

Spatial competences in Williams syndrome: a radial arm maze study.

This study was aimed at evaluating spatial function in subjects with Williams syndrome by using the radial arm maze task and comparing their spatial abilities with those of mental age-matched control subjects. Two different paradigms were administered: the free-choice version for analyzing the aspects linked mainly to procedural and mnesic components, the forced-choice version for disentangling components linked to spatial working memory from the procedural ones. The findings evidenced a deficit in the acquisition of procedural competences as well as in the spatial memory processes in Williams subjects. In the free-choice paradigm, they performed worse than control subjects on all parameters analyzed. Namely, they needed more time to complete the task, did not collect all rewards, exhibited low values of the spatial span as well as low percentages of correct visits, and displayed a reduced use of the most efficient exploration strategies. Even in the forced-choice paradigm, Williams subjects made a number of errors significantly higher than control subjects. The marked impairment in spatial information processing is discussed on the light of neuro-anatomical alterations reported in Williams subjects.

Reading skills and phonological awareness acquisition in Down syndrome.

BACKGROUND: Although reading abilities play a fundamental role in the acquisition of personal autonomy, up until now studies investigating these abilities in Down syndrome (DS) are aimed at defining educational or rehabilitation acquisition. However, studies describing the relationship between reading and phonological awareness in individuals with DS by comparing them to typically developing children often report contradictory results. The aim of this study is to explore reading and phonological awareness skills in a group of participants with DS. METHODS: We administered reading and phonological processing ability tests to 17 DS individuals and to 17 reading-age-matched typically developing children. RESULTS: Concerning reading abilities, participants with DS were impaired on non-word reading and on interpreting accuracy of non-homographic homophones. Their passage comprehension was also limited. Comparable ability was reported in the two groups on irregular word reading and passage reading tasks. Regarding phonological awareness ability, individuals with DS showed lower performances on several tasks, such as rhyming, deletion and syllable segmentation. CONCLUSIONS: People with DS show particular failure on non-word reading, a task where correct decoding is only partially influenced by lexical access or semantic context. Correct non-word reading mainly requires the use of the grapheme-phoneme conversion process. This process is based on the efficiency of phonological awareness abilities, which are partly impaired in people with DS. The rehabilitative implications of these findings are discussed.

Do children with developmental dyslexia have an implicit learning deficit?

OBJECTIVE: The purpose of this study was to investigate the effects of specific types of tasks on the efficiency of implicit procedural learning in the presence of developmental dyslexia (DD). METHODS: Sixteen children with DD (mean (SD) age 11.6 (1.4) years) and 16 matched normal reader controls (mean age 11.4 (1.9) years) were administered two tests (the Serial Reaction Time test and the Mirror Drawing test) in which implicit knowledge was gradually acquired across multiple trials. Although both tests analyse implicit learning abilities, they tap different competencies. The Serial Reaction Time test requires the development of sequential learning and little (if any) procedural learning, whereas the Mirror Drawing test involves fast and repetitive processing of visuospatial stimuli but no acquisition of sequences. RESULTS: The children with DD were impaired on both implicit learning tasks, suggesting that the learning deficit observed in dyslexia does not depend on the material to be learned (with or without motor sequence of response action) but on the implicit nature of the learning that characterises the tasks. CONCLUSION: Individuals with DD have impaired implicit procedural learning.