High Intellectual Potential and High Functioning Autism: Clinical and Neurophysiological Features in a Pediatric Sample.

High Intellectual Potential (HIP) and High Functioning Autism (HFA) are two different conditions sharing some clinical and neurobiological features. The aim of the present study was to characterize a sample of HIP children (n: 16; M/F: 14/2; median age: 10 years) in comparison to those with HFA (n: 17; M/F: 16/1; median age: 13 years) and to neurotypically developed (NTD) children (n: 10; M/F: 4/6; median age: 11 years) from a clinical and neurophysiological perspective. Specifically, a standardized clinical assessment of cognitive and adaptive skills, autistic symptoms, executive functions and behavioral features was performed. Moreover, event-related potentials (ERPs) were recorded, referring specifically to the mismatch negativity (MMN) and P300 paradigm. Our data highlighted the presence of similarities between the intellectually gifted individuals and the ones with autism (i.e., a nonhomogeneous intellective profile, an adaptive skills impairment, subthreshold autistic symptoms and increased perfectionism). Interestingly, a distinct neurophysiological characterization between groups came out, with evidence of a reduced MMN amplitude only in the HFA group. Furthermore, no differences within groups in the P300 component emerged. Therefore, our results start to provide a more informative characterization of the HIP phenotype in comparison to those of HFA and NTD, highlighting the potential role of the MMN amplitude index in helping clinicians and researchers to distinguish between HIP and HFA. Nevertheless, further research on the topic is strongly needed.

Parental Stress and Disability in Offspring: A Snapshot during the COVID-19 Pandemic.

Parenting a child with a disability, such as neurodevelopmental disorders and genetic syndromes, implies a high level of stress. During the COVID-19 outbreak-as a period implying additional challenges-few studies have specifically investigated caregivers' distress among neurodevelopmental disabilities. The objective of the study is to investigate whether during the COVID-19 pandemic, the level of parental stress differs between four disability groups including neurodevelopmental disorders (autism spectrum disorder (ASD), attention deficit and hyperactivity disorder (ADHD)) and genetic syndromes (Rett syndrome (RTT), Sotos syndrome (SS)) in comparison to families with typical development offspring (TD). In total, 220 Italian parents of children affected by neurodevelopmental disabilities (74 ASD, 51 ADHD, 34 SS, 21 RTT, 40 TD; age M 9.4 ± SD 4.2) underwent a standardized evaluation for stress related to parenting through the self-report questionnaire, Parental Stress Index-Short Form (PSI-SF). The main findings show greater levels of parental stress-mainly linked to child behavioral characteristics rather than parental sense of competence-in parents of children affected by a disability in comparison to children with typical development. This study highlights the need to support not only individuals with special needs but also their own caregivers: core figures in the management and outcome of children disorders.

Sex Differences in Autism Spectrum Disorder: Repetitive Behaviors and Adaptive Functioning.

Sex differences in restricted and repetitive behaviors (RRBs) in individuals with Autism Spectrum Disorder (ASD) have been explored with mixed findings. We aimed to investigate sex differences in RRBs through a specific measure-i.e., the Repetitive Behavior Scale Revised (RBS-R)-in a sample of preschool-age and school-age children with ASD. Additionally, we evaluated if RRBs were differently related to adaptive functioning within the male and the female age groups. A sample of 210 ASD individuals (3-18 years; 145 males, 65 females) underwent an in-depth assessment including a cognitive, adaptive functioning evaluation (i.e., the Adaptive Behavior Assessment System, Second Edition (ABAS-II)) and RRBs assessment (i.e., RBS-R). No significant sex differences on the RBS-R total score or any RBS-R subscale emerged. Within the group of older participants, RRBs were negatively associated with all adaptive skill domains independently from sex and age. Our results suggest a lack of sex differences in RRBs in our sample. Additionally, our findings highlight the possible negative impact of RRBs on adaptive skills in older individuals with autism, emphasizing the need for autistic individuals of both sexes to undergo an early intervention targeting RRBs, in order to improve their adaptive skills.

Cognitive phenotype and language skills in children with achondroplasia.

BACKGROUND: Although achondroplasia (ACH) may not be considered a condition that is strictly related to neuropsychiatric problems, many children referred to pediatric neurologists and psychiatrists to undergo motor and linguistic diagnostic-rehab procedures. The purpose of this study was to delineate a characterization of language difficulties in a sample of Italian children with achondroplasia and analyze how an untreated language disorder can develop into a learning disability. METHODS: Seventeen Italian children (average age: 5 years and 8 months) with a clinical diagnosis genetically confirmed of achondroplasia were enrolled. Each child underwent a neuropsychological evaluation depending on the age, which included the following areas: intelligence, language, visual-spatial skills, memory, academic achievements, behavior. RESULTS: Most of ACH patients showed delayed speech development milestones. Cognitive evaluation revealed average abilities. All the ACH children have received a diagnosis of language impairment (DSM-5 "The Diagnostic and Statistical Manual of Mental Disorders 5° edition"): "Speech sound disorder" in the pre-school-age group, "Language disorder" with impairment of both verbal expression and verbal comprehension in the school age children. CONCLUSIONS: Several studies on general population demonstrated that children with developmental speech and language problems are at considerable risk for learning disability. Considering that in our ACH sample the language disorder has been diagnosed in all children, we expect a higher prevalence of learning disabilities in ACH than in general population.

Wearable-based electronics to objectively support diagnosis of motor impairments in school-aged children.

Developmental coordination disorder (DCD) and attention-deficit hyperactivity disorder (ADHD) are neuro-developmental disorders, starting in childhood, which can affect the planning of movements and the coordination. We investigated how and in which measure a system based on wearable inertial measurement units (IMUs) can provide an objective support to the diagnosis of motor impairments in school-aged children. The IMUs measured linear and rotational movements of 37 schoolchildren, 7-10yo, 17 patients and 20 control subjects, during the execution of motor exercises, performed under medical and psychiatric supervision, to assess different aspects of the motor coordination. The measured motor parameters showed a high degree of significance in discriminating the ADHD/DCD patients from the healthy subjects, pointing out which motor tasks are worth focusing on. So, medical doctors have a novel key lecture to state a diagnosis, gaining in objectivity with respect to the standard procedures which mainly involve subjective human judgment. Differently to other works, we propose a novel approach in terms of number of used IMUs and of performed motor tasks. Moreover, we demonstrate the meaningful parameters to be considered as more discriminant in supporting the medical diagnosis.

Promoting Shared Decision Making to strengthen outcome of young children with Autism Spectrum Disorders: the role of staff competence.

Little is known on how the conceptual description of Shared Decision Making (SDM) accomplishes clinical practice in the context of lifetime disabilities as in particular Autism Spectrum Disorders (ASD), when intervention is long-lasting and requires constant family involvement. This study aimed mainly to investigate to what extent the staff's competence in SDM contributes to positive child and parent improvement when involving parents in Early Intensive Behavior Interventions (EIBI). It was also geared to verify whether SDM staff competence contributes to a child's treatment responsiveness. A total of 25 young children with ASD (23 male, 3 female, age range 34-92 months, mean age 51.4±13.6) were included in the study. Of these, nine children were allocated to a Parent Involvement condition accompanied by SDM Staff Training (PI-SDM), and eight children to a Parent Inclusion in Treatment Delivery Only condition without SDM Staff Training (PI-DO). Nine months treatment outcomes of severity, developmental and adaptive measures were compared to Treatment As Usual (n=8). PI-SDM was associated with improvement of autistic symptoms (p≤.05), adaptive functioning (p≤.01) and developmental outcome (p≤.01), as well as parent (p≤.05) and staff competence (p≤.001). The magnitude of outcome was inferior in the PI-PO and TAU group. A Reliable Change was identified in more than 40% of children included in PI-SDM, while PI-PO (>20%) and TAU (>12%) let to little Reliable Change and partially skill deterioration. Staff's SDM skill competence predicts reduced parental stress (ß=-.500, p≤.05) and contributes significantly to a positive treatment responder trajectory (p≤.01), besides lower severity (p≤.05), higher adaptive (p≤.01) and communication skills (p≤.05). The study indicates that parent inclusion should be conceptualized as a collaborative partnership model rather than as adherence in treatment provision, based on a target SDM staff training that may constitute an external contributor to treatment responsiveness and positive child as well as parent outcome.

Sleep spindle activity is correlated with reading abilities in developmental dyslexia.

STUDY OBJECTIVES: To analyze sleep architecture of children with dyslexia, by means of conventional parameters and EEG spectral analysis and to correlate sleep parameters and EEG spectra with neuropsychological measures. DESIGN: Cross-sectional study involving validated sleep questionnaires, neuropsychological scales, and polysomnographic recordings. SETTING: Sleep laboratory in academic center. PARTICIPANTS: Sixteen subjects with developmental dyslexia (mean age 10.8 years) and 11 normally reading children (mean age 10.1 years). All the subjects underwent overnight polysomnographic recording; EEG power spectra were computed from the Cz derivation and spindle density was calculated during sleep stages N2. INTERVENTION: N/A. MEASUREMENTS AND RESULTS: Dyslexic children showed an increase in power of frequency bands between 0.5-3 Hz and 11-12 Hz in stage N2 and between 0.5-1 Hz in stage N3; they also showed significantly increased spindle density during N2. The power of the sigma band in N2 was positively correlated with the Word reading and MT reading tests; similarly, spindle density was significantly correlated with the Word reading test. The increased spindle activity and EEG sigma power in dyslexic subjects were found to be correlated with the degree of dyslexic impairment. CONCLUSIONS: The correlation found between sleep spindle activity and reading abilities in developmental dyslexia supports the hypothesis of a role for NREM sleep and spindles in sleep-related neurocognitive processing.

Slow EEG amplitude oscillations during NREM sleep and reading disabilities in children with dyslexia.

STUDY OBJECTIVES: To analyze non-rapid eye movement (NREM) sleep microstructure of children with dyslexia, by means of cyclic alternating pattern (CAP) analysis and to correlate CAP parameters with neuropsychological measures. DESIGN: Cross-sectional study using polysomnographic recordings and neuropsychological assessments. SETTING: Sleep laboratory in academic center. PARTICIPANTS: Sixteen subjects with developmental dyslexia (mean age 10.8 years) and 11 normally reading children (mean age 10.1 years) underwent overnight polysomnographic recording. INTERVENTION: N/A. MEASUREMENTS AND RESULTS: Sleep architecture parameters only showed some statistically significant differences: number of sleep stage shifts per hour of sleep, percentage of N3, and number of R periods were significantly lower in dyslexic children versus controls. CAP analysis revealed a higher total CAP rate and A1 index in stage N3. A2% and A2 index in stage N2 and N3 were lower in dyslexic children while no differences were found for A3 CAP subtypes. The correlation analysis between CAP parameters and cognitive-behavioral measures showed a significant positive correlation between A1 index in N3 with Verbal IQ, full-scale IQ, and Memory and Learning Transfer reading test; while CAP rate in N3 was positively correlated with verbal IQ. CONCLUSIONS: To overcome reading difficulties, dyslexic subjects overactivate thalamocortical and hippocampal circuitry to transfer information between cortical posterior and anterior areas. The overactivation of the ancillary frontal areas could account for the CAP rate modifications and mainly for the increase of CAP rate and of A1 index in N3 that seem to be correlated with IQ and reading abilities.