Abstract
Increased oxidative stress and defective mitochondrial functioning are shared features among many brain disorders. The aim of this study was to verify retrospectively the clinical efficacy and safety of a metabolic support therapy with Q10 ubiquinol, vitamin E and complex-B vitamins in various neurodevelopmental disorders. This retrospective chart review study included 59 patients (mean age 10.1 ± 1.2 y.o., range 2.5–39 years; M:F = 2.47:1), diagnosed with Autism Spectrum Disorder (n = 17), Autism Spectrum Disorder with co-morbid Intellectual Disability (n = 19), Intellectual Disability or Global Developmental Delay (n = 15), Attention-Deficit/Hyperactivity Disorder (n = 3) and Intellectual Disability in Phelan-McDermid syndrome due to chr. 22q13.33 deletion (n = 5). After a minimum of 3 months of therapy, a positive outcome was recorded in 45/59 (76.27%) patients, with Clinical Global Impression—Improvement scores ranging between 1 (“very much improved”) and 3 (“minimally improved”). The most widespread improvements were recorded in cognition (n = 26, 44.1%), adaptative functioning (n = 26, 44.1%) and social motivation (n = 19, 32.2%). Improvement rates differed by diagnosis, being observed most consistently in Phelan-McDermid Syndrome (5/5, 100%), followed by Intellectual Disability/Global Developmental Delay (13/15, 86.7%), Autism Spectrum Disorder with co-morbid Intellectual Disability (15/19, 78.9%), Autism Spectrum Disorder (11/17, 64.7%) and ADHD (1/3, 33.3%). No significant adverse event or side effect leading to treatment discontinuation were recorded. Mild side effects were reported in 18 (30.5%) patients, with the most frequent being increased hyperactivity (9/59, 15.3%). This retrospective chart review suggests that metabolic support therapy with Q10 ubiquinol, vitamin E and complex-B vitamins is well tolerated and produces some improvement in the majority of patients with neurodevelopmental disorders, especially in the presence of intellectual disability. Randomized controlled trials for each single neurodevelopmental disorder are now warranted to conclusively demonstrate the efficacy of these mitochondrial bioenergetic and antioxidant agents and to estimate their therapeutic effect size.
Highlights
Converging data from animal models and human research indicate that oxidative stress likely represents a shared feature present in many brain disorders and in neurodevelopmental disorders (NDDs), including Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder (ADHD), and Intellectual Disability (ID) [1–3]
10.09 y.o.) and the M:F ratio is 2.47. This sex ratio is in line with an excess of males being affected by neurodevelopmental disorders within all DSM-5 diagnostic categories, ranging from approximately M:F = 1.5:1 in ID to 4:1 in ASD [6]
Patients had a variety of primary NDD diagnoses, encompassing severe (“level 3”) ASD with co-morbid ID or Global Developmental Delay (GDD) (n = 19, 32.2%), moderate or mild (“levels 1–2”) ASD (n = 17, 28.8%), ID or GDD (n = 15, 25.4%), ADHD (n = 3, 5.1%) and 5 (8.5%) patients with Phelan-McDermid Syndrome (PMS), all characterized by the presence of ID, severe Language Developmental Disorder especially for expressive language, Motor Coordination Disorder and autistic traits up to a full ASD diagnosis
Summary
Converging data from animal models and human research indicate that oxidative stress likely represents a shared feature present in many brain disorders and in neurodevelopmental disorders (NDDs), including Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder (ADHD), and Intellectual Disability (ID) [1–3]. Enhanced oxidative stress is usually the consequence and not the primary cause of NDDs [4], reduced ATP production and oxidative damage can seemingly contribute an additional burden to the dysfunction directly produced by the genetic and/or epigenetic defects directly responsible for each disorder Within this framework, supporting mitochondrial function and reducing oxidative stress, while not correcting the primary mechanism responsible for abnormal neurodevelopment, may partially improve behavioral symptoms in many patients fulfilling DSM-5 diagnostic criteria for an heterogeneous array of neurodevelopmental conditions [5]. Pharmacological treatments are prescribed to correct comorbid symptoms in ASD, like sleep disorders, aggressiveness and irritability, hyperactivity and attention deficit, while no effective pharmacological therapy is currently available for the core symptoms of ASD [10] These symptoms respond to interventions based on different cognitive-behavioral paradigms, which are effective and long-lasting, expensive, and time consuming. Any pharmacological treatment able to at least partly ameliorate core ASD symptoms, could conceivably increase the efficacy of behavioral interventions and promote better adaptive functioning, improving the quality of life of patients and families
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