Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)

Spilioti, Martha; Evangeliou, Athanasios; Tramma, Despoina; Theodoridou, Z.; Metaxas, S.; Michailidi, Eleni; Bonti, Eleni; Frysira, Helen; Haidopoulou, A.; Asprangathou, Despoina; Tsalkidis, Aggelos; Kardaras, Panagiotis; Wevers, R.A.; Jakobs, Cornelis; Gibson, K. Michael

doi:10.3389/fnhum.2013.00858

Cited by 58 publications

(45 citation statements)

References 30 publications

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“…The researchers concluded that some evidence exist for the use of KD as an additional or alternative therapy in autistic behavior. Another group of investigators corroborated this observation in a study of a cohort of 187 Greek patients with ASD when they reported that KD resulted in mild to significant clinical improvement in autistic features [41].…”

Section: Management Modalities Of Asd: the Global Disparitiessupporting

confidence: 50%

Autism Spectrum Disorder in Children: The Disparities between the Developed and Developing Countries

Uwaezuoke¹

2015

Autism Open Access

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This review aims to appraise the disparities in the prevalence and management of childhood autism in developed and developing countries, and to discuss strategies that will possibly close the gaps. Autism is one of the pervasive developmental disorders or autism spectrum disorders which are characterized by developmental delays in socialization and communication. Following the revised definition by the Diagnostic and Statistical Manual of mental disorders, Fifth edition (DSM-V), the term 'autism spectrum disorder' (ASD) is now used as the nomenclature to identify children with autism and other related disorders. Unlike in developing countries, more research work has been conducted in the developed world where advanced support services and use of standardized screening and diagnostic instruments are the norm. Thus, disparities exist in the prevalence rates as high figures are reported from developed countries while the rates from developing countries are low. Furthermore, wide therapeutic options are available for children with ASD in the developed world. In developing countries, treatment interventions are largely unavailable coupled with dearth of the requisite health care professionals. To close the huge gaps in epidemiologic data and management of ASD between the developed and developing nations, there is need for international bodies such as 'Autism speaks' to increasingly drive the global advocacy action for children with ASD. It is also recommended that the governments of these developing nations should prioritize the funding of autism research, undertake massive public enlightenment and build the capacity of health professionals in synergy with international advocacy groups.

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Section: Management Modalities Of Asd: the Global Disparitiessupporting

confidence: 50%

Autism Spectrum Disorder in Children: The Disparities between the Developed and Developing Countries

Uwaezuoke¹

2015

Autism Open Access

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“…Initial case reports and a prospective pilot study of 30 individuals with autistic behavior suggests the KD may be effective as a treatment strategy for ASD [11–13]. Follow up clinical studies of 187 Greek and 45 Egyptian children have provided additional support that the KD may safely improve symptoms of certain individuals with ASD [14,15]. In addition, research using animal mouse models of ASD have demonstrated improvements in behavior on the KD [16–19].…”

Section: Introductionmentioning

confidence: 99%

A modified ketogenic gluten-free diet with MCT improves behavior in children with autism spectrum disorder

Lee

Corley

Pang

et al. 2018

Physiology & Behavior

109

111

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Purpose The ketogenic diet is a low-carbohydrate, moderate protein, high-fat diet that has emerged as a potential treatment for autism spectrum disorder. Autism spectrum disorder is a neurodevelopmental disorder of social communication, and restricted, repetitive behaviors and interests in need of novel therapies. An open-label clinical trial was done in Honolulu, Hawaii to test a modified ketogenic diet for improvement of core clinical impairments in children with ASD. Intervention A modified ketogenic gluten-free diet regimen with supplemental MCT was completed in 15 children ages 2 to 17 years for 3 months. Clinical (ADOS-2, CARS-2) and biochemical measures were performed at baseline and 3-months on the ketogenic diet. Main outcome Children administered a modified ketogenic gluten-free diet with supplemental MCT significantly improved core autism features assessed from the ADOS-2 after 3 months on diet (P = 0.006). No significant difference was observed in restricted and repetitive behavior score (P = 0.125) after 3 months on the diet protocol. Substantial improvement (> 30% decrease ADOS-2 total score) was observed in six participants, moderate improvement (> 3 units) in two participants, and minor/no improvement in seven participants. Ten participants assessed at a six-month time point sustained improvement in total ADOS-2 and social affect subdomain scores comparing baseline and 6 months (P = 0.019; P = 0.023), but no significant improvement in restricted and repetitive behavior scores were noted (P = 0.197). Significant improvements in CARS-2 items after 3 months of the modified ketogenic protocol were observed in imitation, body use, and fear or nervousness (P = 0.031, P = 0.008, P = 0.039). The percent change on ADOS-2 score from baseline to 3 months was associated with baseline high-density lipoprotein levels (ρ = −0.67, P = 0.007) and albumin levels (ρ = −0.60, P = 0.019). Moreover, the percent change from baseline to 3 months in ADOS-2 scores was significantly associated with percent change in high-density lipoprotein levels (ρ = 0.54, P = 0.049) and albumin levels (ρ = 0.67, P = 0.010). Conclusions A modified gluten-free ketogenic diet with supplemental MCT is a potentially beneficial treatment option to improve the core features of autism spectrum disorder and warrants further investigation. Trial registration Trial Registry: Clinicaltrials.gov Registration Number: NCT02477904URL: https://www.clinicaltrials.gov/ct2/show/NCT02477904?term=ketogenic+diet&cond=Autism&rank=1

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“…Consequently, milder forms of PAH deficiency may have normal intelligence and development, but can present with more subtle symptoms like learning disabilities, mild behavioural disturbances and school problems in childhood or reduced emotional wellbeing, impaired ability to communicate and poor social functioning in adolescence and adulthood 7 . Children may be misdiagnosed as attention-deficit hyperactivity disorder or autism spectrum disorder and prescribed neurotropic drugs with no benefit; adolescents and adults may undergo extensive evaluations for leukodystrophy due to the typical brain magnetic resonance imaging findings of PAH deficiency 8,9 . Inability to diagnose mild forms of PAH deficiency poses additional harm in females, since high blood phenylalanine levels during pregnancy may result in developmental delay, intellectual disability, microcephaly, intrauterine growth retardation, congenital heart defects and other anomalies in the offspring, a teratogenic condition known as "maternal PKU syndrome" 10 .…”

Section: Discussionmentioning

confidence: 99%

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

Yıldız¹,

Dursun²,

Tokatlı³

et al. 2016

Turk J Pediatr

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Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause.

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Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)

Cited by 58 publications

References 30 publications

Autism Spectrum Disorder in Children: The Disparities between the Developed and Developing Countries

Autism Spectrum Disorder in Children: The Disparities between the Developed and Developing Countries

A modified ketogenic gluten-free diet with MCT improves behavior in children with autism spectrum disorder

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

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