We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4 -14 years old) who presented with confirmed features of ASD. Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2) and phenylketonuria (1) (2.7%). Additional metabolic disturbances suggestive of IEMs included two patients whose increased urine 3-OH-IVA was accompanied by elevated methylcitrate and lactate in sera, and 30 patients that showed abnormal glucose-loading tests. In the latter group, 16/30 patients manifested increased sera beta hydroxybutyrate (b-OH-b) production and 18/30 had a paradoxical increase of sera lactate. Six patients with elevated b-OH-b in sera showed improved autistic features following implementation of a ketogenic diet. Five patients showed decreased serum ketone body production with glucose loading. Twelve of 187 patients demonstrated nonspecific MRI pathology, while 25/187 had abnormal EEG findings. Finally, family history was positive for 22/187 patients (1st or 2nd degree relative with comparable symptomatology) and consanguinity was documented for 12/187 patients. Our data provide evidence for a new biomarker (3-OH-IVA) and novel treatment approaches in ASD patients. Concise 1 sentence take-home message: Detailed metabolic screening in a Greek cohort of autismspectrum disorder (ASD) patients revealed biomarkers (urine 3-hydroxyisovaleric acid and serum b-OH-b) in 7% (13/187) of patients for whom biotin supplementation or institution of a ketogenic diet resulted in mild to significant clinical improvement in autistic features.

The boundaries between neurodevelopmental disorders are often indistinct, even among specialists. But do these boundaries exist, or do experts struggle to distinguish and categorize symptoms in order to arrive at a dominant diagnosis while comorbidity continually leaves questions about where each disorder ends and begins? What should be reconsidered? The introduction of the term ‘spectrum of neurodevelopmental disorders’ could pave the way for a re-appraisal of the clinical continuum of neurodevelopmental disorders. This study aims to highlight the problems that emerge in the field of the differential diagnosis of neurodevelopmental disorders and propose a renegotiation of the distinctiveness criteria.

Specific Learning Disorder (SLD) is a multifactorial, neurodevelopmental disorder which may involve persistent difficulties in reading (dyslexia), written expression and/or mathematics. Dyslexia is characterized by difficulties with speed and accuracy of word reading, deficient decoding abilities, and poor spelling. Several studies from different, but complementary, scientific disciplines have investigated possible causal/risk factors for SLD. Biological, neurological, hereditary, cognitive, linguistic-phonological, developmental and environmental factors have been incriminated. Despite worldwide agreement that SLD is highly heritable, its exact biological basis remains elusive. We herein present: (a) an update of studies that have shaped our current knowledge on the disorder’s genetic architecture; (b) a discussion on whether this genetic architecture is ‘unique’ to SLD or, alternatively, whether there is an underlying common genetic background with other neurodevelopmental disorders; and, (c) a brief discussion on whether we are at a position of generating meaningful correlations between genetic findings and anatomical data from neuroimaging studies or specific molecular/cellular pathways. We conclude with open research questions that could drive future research directions.

Background: Increased parental stress is strongly related to the severity of autism spectrum disorder (ASD) symptomatology. Parents’ coping strategies and social support issues add to the complexity of this relationship. Aim: The present study investigated the relationship between self-regulation skills and parenting stress in parents of nonverbal children with ASD. Methods and procedure: The Parenting Stress Index–Short Form (PSI-SF) was administered to 75 families, and self-regulation scores on a Motor Behavior Checklist for children (MBC) were recorded by students’ class teachers (level of functioning-behavioral problems). In addition, interviews were conducted with a focus group of six parents (four mothers and two fathers) to explore the underline factors of parental stressin-depth. Results: Correlation analyses revealed that parenting stress was positively correlated with elevated scores on MBC children’s self-regulation subscale. On the other hand, parenting stress was negatively correlated with the level of social functional support reported. Qualitative data were analyzed using transcripts, revealing additional stressors for families and parents, and resulting in recommendations to overcome these factors. Conclusions and implications: Aiming at developing strategies to improve self-regulation skills in nonverbal children with ASD may be particularly important in reducing parental stress for families having nonverbal children with autism and other developmental disabilities. Parents’ stressors and suggestions during interviews are also discussed.

Measuring health- related quality of life (HRQoL) is very important for children with developmental disorders such as autism spectrum disorder (ASD) and Down syndrome (DS). However, no HRQoL studies found in the literature for the differences between children with ASD and children with DS. The aim of this study was to examine HRQoL in children with ASD and children with DS. The participants consisted of 206 children with ASD (61), DS (55) and typical development (TD) (90), aged 5-10 years old, after administering anonymous questionnaires to their parents–caregivers. The Pediatric Quality of Life Inventory ™ 4.0– Parent Report (PedsQL) was used to measure HRQoL. One-way analysis of variance and χ2 were applied for comparisons among groups. TD group scored higher than ASD and DS in all comparisons. Post-hoc (Tukey) comparisons revealed that the statistically univariate effect was due to differences between the TD group and the other two groups, ASD and DS (p<0.01). The ASD group achieved significantly lower scores than DS in the emotional functioning scale. Post-hoc analysis did not reveal any significant differences between the DS and the ASD group in the physical health, psychosocial health and the total PedsQL summary scores. Children with ASD and DS had significantly lower HRQoL compared to a TD population, and this finding was not affected by age. Children with ASD demonstrated a significantly lower score in the emotional functioning scale than children with DS but are similar in the physical health scale. It is thus considered necessary to take the physical health scale into account when assessing and designing treatment for children with ASD. Future research studies should focus on HRQoL indicators that could serve as a standard diagnostic tool for the development of therapies and outcomes of assessment findings in ASD and DS.

The aim of the present study was to explore the impact of school year’s extension due to the coronavirus pandemic (COVID-19) by addressing test anxiety and by studying the coping strategies adolescents used to overcome it. For the majority of the adolescents the final exams can be a powerful source of stress, since the entrance examinations are required for admission into higher education and further reflect the transition to adulthood. The sample consisted of 67 High School students and the data collection was conducted online due to the imposed measures by the Greek government. Results showed normal or average levels of test anxiety with low self-esteem and fear of a family member contracting the virus identified as significant predictors. Students who participated in the research pointed teachers as the main source of pressure in school exams. Gender differences regarding social media engagement and online video gaming were also detected. Resilience was equally as high among genders [t(63) = 858, p =.324] and the correlation between test anxiety and resilience did not produce a statistically significant result (r = -.178, p = .155).