scholarly journals Primary Carnitine Deficiency and Autism Spectrum Disorder is there a Relationship?

2021 ◽  
Vol 4 (3) ◽  
Keyword(s):  
Autism Spectrum Disorders ◽  
Genetic Disorder ◽  
Organic Cation Transporter ◽  
Autism Spectrum ◽  
Carnitine Deficiency ◽  
Acid Oxidation ◽  
Carnitine Transporter ◽  
Spectrum Disorders ◽  
Primary Carnitine Deficiency ◽  
Intellectual Deficit

Carnitine plays essential role in energy metabolism .Systemic primary carnitine deficiency is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. The decrease carnitine results in impaired fatty acid oxidation. Primary carnitine deficiency presents a hypoketotic, hypoglycemia and hepatic encephalopathy. Recently, primary carnitine deficiency has been associated with neurodevelopmental disorders including autism spectrum disorders. A seven year-old schoolgirl with intellectual deficit, autistic features and primary carnitine deficiency has been reported. A significant decrease in carnitine levels has been shown in patients with autism and this has been related to the existence of a mitochondrial disease and more severe autism. The early identification of patients with low levels of carnitine or primary carnitine deficiency, with the different methods of measuring free carnitine, including tandem mass spectrometry could help to identify these patients early and achieve an early treatment and better neurological prognosis, because autism spectrum disorders may be preventable in this subgroup. We hope that this paper is useful to neurologists and pediatricians, and may give them more reason to suspect a diagnosis of PCD and autism.

scholarly journals First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder

2019 ◽  
Vol 9 (6) ◽  
pp. 137 ◽  
Author(s):  
José Guevara-Campos ◽  
Lucía González-Guevara ◽  
José Guevara-González ◽  
Omar Cauli
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Genetic Disorder ◽  
Autism Spectrum ◽  
Carnitine Deficiency ◽  
Spectrum Disorder ◽  
Physical Growth ◽  
Metabolic Decompensation ◽  
Reye Syndrome ◽  
Primary Carnitine Deficiency

Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a seven-year-old girl diagnosed with PCD who presented atypical features of the disease, including a developmental delay involving language skills, concentration, and attention span, as well as autistic features and brain alterations apparent in magnetic resonance imaging. We aim to highlight the difficulties related to the diagnostic and therapeutic approaches used to diagnose such patients. The case reported here presented typical signs of PCD, including frequent episodes of hypoglycemia, generalized muscle weakness, decreased muscle mass, and physical growth deficits. A molecular genetic study confirmed the definitive diagnosis of the disease (c.1345T>G (p.Y449D)) in gene SLC22A5, located in exon 8. PCD can be accompanied by less common clinical signs, which may delay its diagnosis because the resulting global clinical picture can closely resemble other metabolic disorders. In this case, the patient was prescribed a carnitine-enriched diet, as well as oral carnitine at a dose of 100 mg/kg/day. PCD has a better prognosis if it is diagnosed and treated early; however, a high level of clinical suspicion is required for its timely and accurate diagnosis.

Disfluency Characteristics Observed in Young Children With Autism Spectrum Disorders: A Preliminary Report

2010 ◽  
Vol 20 (2) ◽  
pp. 42-50 ◽  
Author(s):  
Laura W. Plexico ◽  
Julie E. Cleary ◽  
Ashlynn McAlpine ◽  
Allison M. Plumb
Keyword(s):  
Autism Spectrum Disorders ◽  
Young Children ◽  
Children With Autism ◽  
Descriptive Study ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Children With Asd ◽  
Young Children With Autism ◽  
Spectrum Disorders ◽  
Developmental Stuttering

This descriptive study evaluates the speech disfluencies of 8 verbal children between 3 and 5 years of age with autism spectrum disorders (ASD). Speech samples were collected for each child during standardized interactions. Percentage and types of disfluencies observed during speech samples are discussed. Although they did not have a clinical diagnosis of stuttering, all of the young children with ASD in this study produced disfluencies. In addition to stuttering-like disfluencies and other typical disfluencies, the children with ASD also produced atypical disfluencies, which usually are not observed in children with typically developing speech or developmental stuttering. (Yairi & Ambrose, 2005).

Aging and Autism

2012 ◽  
Vol 17 (2) ◽  
pp. 69-75 ◽  
Author(s):  
Pamela A. Smith
Keyword(s):  
Health Care ◽  
Autism Spectrum Disorders ◽  
Patient Group ◽  
Older Patients ◽  
Geriatric Patients ◽  
Recent Literature ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Need For Support ◽  
Spectrum Disorders

In this article, I will review the available recent literature about the aging population with autism, a patient group that researchers know little about and a group that is experiencing a growing need for support from communication disorders professionals. Speech-language pathologists working with geriatric patients should become familiar with this issue, as the numbers of older patients with autism spectrum disorders is likely to increase. Our profession and our health care system must prepare to meet the challenge these patients and residents will present as they age.

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