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 autism spectrum disorder (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 (KD). Five patients showed decreased serum ketone body production with glucose loading. Twelve of 187 patients demonstrated non-specific MRI pathology, while 25/187 had abnormal electroencephalogram (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 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 KD resulted in mild to significant clinical improvement in autistic features.
Introduction: 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. Aim: The aim of this study was to examine HRQoL in children with ASD and children with DS. Methods: 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 χ 2 were applied for comparisons among groups. Results: 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. Conclusions: 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 manifestation of Specific Learning Disorder (SLD) during adulthood is one of the least examined research areas among the relevant literature. Therefore, the adult population with SLD is considered a “rare” and “unique” population of major scientific interest. The aim of the current study was to investigate, describe, and analyze the clinical, academic, and socio-demographic characteristics, and other everyday functioning life-skills of adults with SLD, in an attempt to shed more light on this limited field of research. The overall sample consisted of 318 adults, who were assessed for possible SLD. The diagnostic procedure included self-report records (clinical interview), psychometric/cognitive, and learning assessments. The main finding of the study was that SLD, even during adulthood, continues to affect the individuals’ well-being and functionality in all of their life domains. There is an ongoing struggle of this population to obtain academic qualifications in order to gain vocational rehabilitation, as well as a difficulty to create a family, possibly resulting from their unstable occupational status, their financial insecurity, and the emotional/self-esteem issues they usually encounter, due to their ongoing learning problems. Moreover, the various interpersonal characteristics, the comorbidity issues, and the different developmental backgrounds observed in the clinical, academic, personal, social, and occupational profiles of the participants, highlight the enormous heterogeneity and the continuum that characterizes SLD during adulthood. We conclude that there is an imperative need for further research and the construction of more sufficient tools for the assessment and diagnosis of SLD during adulthood, which will take into account the developmental challenges and milestones in a series of domains, in order to assist this “vulnerable” population with their life struggles.
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