Cognitive, Behavioral, and Sensory Profile of Pallister-Killian Syndrome: A Prospective Study of 22 Individuals.

BACKGROUND: Developmental delay and intellectual disability are two pivotal elements of the phenotype of Pallister-Killian Syndrome (PKS). Our study aims to define the cognitive, adaptive, behavioral, and sensory profile of these patients and to evaluate possible correlations between the different aspects investigated and with the main clinical and demographic variables. METHODS: Individuals of any age with genetically confirmed PKS were recruited. Those ≤ 42 months were administered the Bayley Scales of Infant and Toddler Development Third Edition (Bayley-III), and those > 42 months the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II). Stereotyped behaviors (Stereotypy Severity Scale, SSS) and aggressive behaviors (Behavior Problems Inventory-Short Version, BPIs) were assessed in all subjects > 1 year; sensory profile (Child Sensory Profile 2, C-SP2) in all aged 2-18 years. RESULTS: Twenty-two subjects were enrolled (11 F/11 M; age 9 months to 28 years). All subjects ≤ 42 months had psychomotor developmental delay. Of the subjects > 42 months, 15 had low IQ deviation, and 1 in the normal range. Stereotypies were frequent (median SSS-total score 25/68). Lower Vineland-II values corresponded to greater intensity and frequency of stereotypies (p = 0.004 and p = 0.003), and self-injurious behaviors (p = 0.002 and p = 0.002). Patients with severe low vision had greater interference of stereotypies (p = 0.027), and frequency and severity of aggressive behaviors (p = 0.026; p = 0.032). The C-SP2, while not homogeneous across subjects, showed prevalence of low registration and sensory seeking profiles and hypersensitivity to tactile and auditory stimuli. Lower Vineland-II scores correlated with higher Registration scores (p = 0.041), while stereotypies were more frequent and severe in case of high auditory sensitivity (p = 0.019; p = 0.007). Finally, greater sleep impairment correlated with stereotypies and self-injurious behaviors, and lower Vineland-II scores. CONCLUSIONS: The present study provides a further step in the investigation of the etiopathogenesis of the syndrome. Furthermore, these aspects could guide rehabilitation therapy through the identification of targeted protocols.

Phonic and Motor Stereotypies in Autism Spectrum Disorder: Video Analysis and Neurological Characterization.

Stereotypies are among the core symptoms of Autism spectrum disorder (ASD) and can cause significant clinical impairment. At present, phonic stereotypies in ASD have been scarcely explored. This study investigates the frequency, variability, and typologies of phonic and motor stereotypies in children with ASD and their association with clinical neurological variables. We examined 35 patients by recording standardized video sessions and administering the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Phonic stereotypies were present in 83.0% of the patients. The most prevalent subtypes were noncommunicative vocalizations (60.0%), single syllables (37.1%), and echolalic stereotypies (22.9%). Noncommunicative vocalizations were more frequent in nonverbal patients (OR = 4.629, p = 0.008), while echolalic stereotypies were more represented in verbal patients (OR = 0.279, p = 0.028). Patients with intellectual disability (ID) showed a higher number (F(1,26) = 9.406, p = 0.005) and variability (F(1,25) = 7.174, p = 0.013) of motor stereotypies, with a higher number (F(1,26) = 13.268, p = 0.005) and variability (F(1,26) = 9.490, p = 0.005) of stereotypies involving the head/trunk/shoulders category. Patients with guttural stereotypies showed a higher variability of total motor stereotypies (OR = 1.487, p = 0.032) and self-directed motor stereotypies (OR = 4.389, p = 0.042). These results, combined with a standardized video-analysis, document the frequency and variability of phonic stereotypies among children with ASD. Correlations between specific phonic stereotypies and verbal abilities should be investigated further.

Relationship between Sensory Alterations and Repetitive Behaviours in Children with Autism Spectrum Disorders: A Parents' Questionnaire Based Study.

The relationship between sensory profile and repetitive behaviours in autism spectrum disorder (ASD) has long been known. However, there is no consensus on the type of relationship that exists between them. This monocentric retrospective-prospective observational study aimed (a) to detect a clinical correlation between the severity of repetitive behaviours and the alterations of sensory profile in a sample of 50 children diagnosed with ASD; (b) to evaluate how different patterns of stereotypies and sensory alterations correlate with each other and with the main clinical-instrumental variables in the same sample. We enrolled 29 children in the retrospective phase of the study and 21 in the prospective phase. The Repetitive Behaviour Scale-Revised (RBS-R) and the Short Sensory Profile (SSP) were administered to the caregivers, and clinical-instrumental data were collected. SSP and RBS-R total scores directly correlated with a high significance rate. Among the subscales, the strongest correlations involved "Visual/Auditory Sensitivity", related to "Stereotyped Behaviour" and "Sameness Behaviour". "Under-Responsive/Seeks Sensation" related to "Stereotyped Behaviour". Sex and intellectual disability significantly influenced both the stereotypies and the sensory alterations of the examined population. In conclusion, this study provides new insights into the relationship between sensory alterations and repetitive behaviours in ASD children by using direct medical observation and parent observation.

Autism spectrum disorder and anorexia nervosa: an Italian prospective study.

BACKGROUND: Potential overlaps exist between psychopathological features of Anorexia Nervosa (AN) and Autism Spectrum Disorder (ASD). The impact of malnutrition on autistic traits in patients with AN should be considered. This study investigates possible associations among the psychopathology of Eating Disorders (EDs), ASD traits and BMI in a group of young patients with AN, using the EDI-3 (Eating Disorder Inventory-3) test and gold-standard measures for ASD. METHODS: Prospective study involving 23 inpatients admitted to an Italian Centre for paediatric ED. ASD traits and ED psychopathology were assessed administering the ADOS-2 (Autism Diagnostic Observation Schedule-2), AQ (Autism Quotient) and EDI-3 tests. Both present and past autistic traits were investigated using different versions of AQ. Correlations were adjusted for BMI, Obsessive Compulsive Disorder (OCD) comorbidity and concurrent antipsychotic treatments. RESULTS: An ASD diagnosis was possible in 22% of patients. Significant correlations were documented between ASD traits and ED psychopathology: AQ total-Interpersonal problems (IPC) (p = 0.041); AQ total-Global psychological maladjustment (GMPC) (p = 0.027); AQ social skills-Ineffectiveness (IC) (p = 0.018); AQ social skills-IPC (p = 0.019); AQ social skills-Affective problems (APC) (p = 0.025); AQ social skills-GMPC (p = 0.007); AQ attention switching-IPC (p = 0.020); ADOS-2 imagination-IC (p = 0.035). These correlations were independent of BMI, OCD and antipsychotic treatments. CONCLUSIONS: ASD traits presented high prevalence in a group of young inpatients with AN. These traits were significantly correlated to 4 specific EDI-3 subscales and independent of BMI. This is the first study to investigate the relationship between ASD traits as measured with gold-standard measures, EDI-3 scores, and BMI.

Parenting Stress and Broader Phenotype in Parents of Children with Attention Deficit Hyperactivity Disorder, Dyslexia or Typical Development.

In the present study parenting stress and the broader phenotype are investigated in two highly common developmental disorders, namely Attention Deficit Hyperactivity Disorder (ADHD) and specific reading impairment (dyslexia). Within a total sample of 130 parents, 27 were parents of children with ADHD (P-ADHD), 38 were parents of children with a diagnosis of dyslexia (P-DYS) and the other 65 participants were parents of children with typical development (P-TD). A battery of cognitive tasks was administered which included verbal and non-verbal Intellectual Quotient (IQ), reading speed (passage and nonwords), verbal fluency and the Attention Network Task (ANT). Reading history, symptoms of ADHD in adults and parenting stress were measured through questionnaires. Group differences evidenced that the P-DYS group had lower scores in the reading tasks, in the verbal fluency task and in the reading history questionnaire. Conversely, the P-ADHD group had more transversal cognitive weaknesses (IQ, reading tasks, verbal fluency) and the highest scores in parenting stress and ADHD symptoms, together with poor reading history. The groups did not differ in the ANT task. Parenting stress was predicted, on the whole sample, by lower socioeconomic status (SES) and number of family members and higher ADHD symptoms. Implications for research and clinical settings are discussed.

Daily rhythms of cognition-related factors are modified in an experimental model of Alzheimer's disease.

The accumulation of amyloid-ß (Aß) peptides in the brain of Alzheimer disease patients is associated to cognitive deficit, increased oxidative stress, and alterations in the circadian rhythms. Brain-derived neurotrophic factor (BDNF) and Neurogranin (RC3), play an important role in the synaptic plasticity underlying memory and learning. Previously, we observed BDNF and RC3 expression follow a daily rhythmic pattern in the hippocampus of young rats. The objective of this study was to investigate the effects of an intracerebroventricular (i.c.v) injection of aggregated Aß peptide (1-42) on temporal patterns of ApoE protein, Bdnf and Rc3 mRNA, lipid peroxidation (LPO) and reduced glutathione (GSH) levels, in the rat hippocampus. We observed an i.c.v. injection of Aß aggregates phase shifts daily BDNF and RC3 expression as well as LPO and decreased the mesor of GSH rhythms. ApoE protein levels vary rhythmically throughout the day. ApoE levels increase at ZT 03:39±00:22 in the hippocampus of control rats and at ZT 06:30±00:28 in the treated animals. Thus, elevated levels of Aß aggregates, characteristic of AD, altered temporal patterns of cognition related-factors, probably, as a consequence of changes in the daily variation of ApoE-mediated Aß aggregates clearance as well as in the 24h rhythms of the cellular redox state.