Autism and inborn errors of metabolism: how much is enough?

Asato, Miya R.; Goldstein, Amy; Schiff, Manuel

doi:10.1111/dmcn.12771

Cited by 11 publications

(14 citation statements)

References 7 publications

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“…However, two patients with NMDAR antibodies and persisting severe learning difficulties suggest the need for a more aggressive immunotherapy in those patients. The patient with AQP4 antibodies described here parallels a recently identified case of brainstem syndrome presenting with AQP4 antibodies, 5 which suggests the need for laboratory testing for AQP4 antibodies in patients with brainstem involvement.…”

supporting

confidence: 76%

“…Campistol et al concur with previous researchers who have critically analyzed whether screening for IEM should become a standard of care for patients with ASD, but have concluded that general screening for IEM in the autism population is neither cost-effective nor beneficial in the non-syndromic autism population. 5 Being able to cite current research is an effective tool for clinicians and scientists who continue to empathize with parents in the ongoing search for what remains largely mysterious: the cause, effective treatments, and long-term implications of ASDs. The representation of children as small adults has hugely affected the neurobiological sciences.…”

mentioning

confidence: 99%

“…4 From this age onwards, there is a regionally specific loss of synaptic connections, which is paralleled by a reduction in grey matter volume. 5 Second, since the mechanisms working within the child's brain are different from those of adulthood, the pathophysiological processes at the base of some nervous diseases will also be different, depending on age. This could have important consequences at the therapeutic level.…”

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confidence: 99%

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Inborn error metabolic screening in nonsyndromic autism spectrum disorders

Reiner

2016

Develop Med Child Neuro

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receptor (n=5), myelin oligodendrocyte glycoprotein (MOG, n=5), aquaporin-4 (AQP4, n=1), and voltage-gated potassium channels (n=3). Because the etiology of brainstem encephalitis is widely unknown, the results described by Hacohen et al. contribute important knowledge to immunological aspects of the disease in pediatric patients.Although the numbers of patients with antibodies were small in each group, they presented with typical clinical phenotypes. NMDAR antibodies were only found in the encephalitis group, and the association of these antibodies with psychiatric features, movement disorders, or seizures -which are the main symptoms characteristic for autoimmune encephalitis -fits with the typical presentation of NMDAR encephalitis.3 In contrast, MOG antibodies were seen exclusively in patients with white matter involvement such as clinical isolated syndrome or acute disseminated encephalomyelitis (ADEM). The low percentage of MOG antibodies in this ADEM group compared to a recent study 4 prospectively investigating clinical and neuroradiological courses of ADEM patients, which identified MOG antibodies in 58% of the patients, might be explained by the overrepresentation of BBE patients.Compared to previous studies, Hacohen et al. observed different frequencies of antibody distributions, which could be explained by the characteristics and limitations of their current study. The cohort they investigated is a clinically heterogeneous population of pediatric brain stem encephalitis patients, which corresponds well to a 'real life setting' in a referral center. Nevertheless, the high frequency of GQ1b antibodies among patients with confirmed Bickerstaff's brainstem encephalitis (43%) has to be, at least in part, attributed to a selection bias, because serum samples investigated here were initially collected for GQ1b antibody testing. As pointed out by the authors, further limitations such as testing a purely Japanese cohort and the lack of cerebrospinal fluid might yield skewed results.Group sizes of each antibody found by Hacohen et al. were small, so statistical analysis has limited value for any implications on treatment strategies. However, two patients with NMDAR antibodies and persisting severe learning difficulties suggest the need for a more aggressive immunotherapy in those patients. The patient with AQP4 antibodies described here parallels a recently identified case of brainstem syndrome presenting with AQP4 antibodies, 5 which suggests the need for laboratory testing for AQP4 antibodies in patients with brainstem involvement.In sum, for pediatric patients with CNS inflammation involving the brainstem, one should be aware of possible contributions of antibodies to glial and neuronal antigens. By reasonably interpreting characteristic clinical symptoms, the identification of relevant antibodies at onset (in particular NMDAR, AQP4, and MOG antibodies) could influence treatment strategies towards a more or less intensive immunotherapy.

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confidence: 76%

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confidence: 99%

mentioning

confidence: 99%

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Inborn error metabolic screening in nonsyndromic autism spectrum disorders

Reiner

2016

Develop Med Child Neuro

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“…7,16 Moreover, while vigabatrin in succinic semialdehyde dehydrogenase deficiency reduces seizure frequency, data about the effect of taurine on autistic phenotype is limited and controversial. [17][18][19] In any case, it should be clarified that although the above interventions may treat some aspects of the autistic phenotype, thus improving quality of life, they do not constitute a total cure for autism. Furthermore, targeted therapies for inborn errors of metabolism should always be administered along with appropriate educational and behavioral interventions.…”

Section: Available Treatment Options For Children With Autism and An mentioning

confidence: 99%

“…Furthermore, targeted therapies for inborn errors of metabolism should always be administered along with appropriate educational and behavioral interventions. 19,20 The Need for Metabolic Screening…”

Section: Available Treatment Options For Children With Autism and An mentioning

confidence: 99%

Is Metabolic Screening Necessary in Children with Autism Spectrum Disorder? A Mini Review

Γώγου

Evangeliou

2018

J Pediatr Neurol

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Autism spectrum disorder is a clinically heterogeneous entity with no known specific cause. A variety of inborn errors of metabolism include autistic-like phenotypes in their clinical manifestations. As targeted therapies for many of these errors exist, a question arises whether a routine metabolic screening in all children with autism should be performed. According to current literature, a metabolic workup should not be considered in children with nonsyndromic autism as a first-line investigation. However, detailed cost–benefit analyses are needed to investigate the benefit of a targeted screening of treatable metabolic errors compared with the total financial burden of autism.

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An Approach to the Genetic Evaluation of Children with Autism Spectrum Disorders

Marble

McPherson²

2022

Autism and Child Psychopathology Series

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Autism and inborn errors of metabolism: how much is enough?

Cited by 11 publications

References 7 publications

Inborn error metabolic screening in nonsyndromic autism spectrum disorders

Inborn error metabolic screening in nonsyndromic autism spectrum disorders

Is Metabolic Screening Necessary in Children with Autism Spectrum Disorder? A Mini Review

An Approach to the Genetic Evaluation of Children with Autism Spectrum Disorders

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