Mitochondrial diseases in childhood: a clinical approach to investigation and management

Abstract

ATPAdenosine triphosphate COX Cytochrome c oxidase MELAS Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes mtDNA Mitochondrial DNA nDNA Nuclear DNA POLG1 Polymerase gamma gene SNHI Sensorineural hearing impairmentMitochondrial diseases are a common cause of inherited neurological disorders in children. Although dysfunction of the central nervous system is prominent, multisystem involvement also occurs. Diagnosis relies on characteristic clinical features, an understanding of mitochondrial genetics, and a logical, informed approach to investigations. There is a significant body of recent literature on advances in mitochondrial genetics and the investigation of mitochondrial diseases. However, to our knowledge there remains a paucity of published information on the management of these disorders. Management of the complex constellation of neurological and multisystem clinical features is challenging, and is reliant on a multidisciplinary approach. The care of the child and family is dependent on clear communication between health professionals from primary, secondary, and tertiary care as well as specialist input from quaternary services. The aim of this review is to provide paediatric neurologists, paediatricians, and allied health professionals with a structured approach to the diagnosis and management of children with suspected or confirmed mitochondrial disease.

Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy

“…[24][25][26][27] Despite this, relatively little is known about their associated economic burden beyond direct medical costs. 24,25 However, a more comprehensive understanding of disease burden, including nonclinical burdens such as financial impact, is required to personalize disease management according to families' needs.…”

Prenatal and preimplantation genetic diagnosis - a step in right path

“…Although mitochondrial dysfunctions are considered to be a rare disorder, the current epidemiological studies states that at least 1 in 5000 individuals being affected by mitochondrial dysfunction and diseases [59]. Though the occurrence of individual mutations is much higher, affecting low number in live births [60,61], these mutations can develop disease at a small proportion of individuals [62]. At present, there is no specific cure for mitochondrial disorders, the majority of the available treatments being directed towards relieving the symptoms [63].…”

The Mitochondrial Disease Narp Syndrome in the Practice of a Pediatric Neurologist

“…Это ведущие способы профилактики осложнений у больных с NARP-синдромом, позволя-ющие предотвратить развитие контрактур бедер, сни-зить риск развития сколиоза и т. д. Адекватный 24-ча-совой постуральный контроль позволяет больному заниматься повседневной деятельностью: принимать пищу, играть, учиться и др. [15].…”

“…Нарушение зрения: иногда возможна коррекция зрения с помощью очков и линз. Детям со сниженным зрением показана стимуляция коркового представи-тельства органа зрения с применением специальных мультисенсорных игр и игрушек [15]. Профилактика и лечение кардиологических нарушений заключаются в своевременном использовании кардиостимулято-ров или, при необходимости, трансплантации серд-ца [11].…”

“…Профилактика и лечение кардиологических нарушений заключаются в своевременном использовании кардиостимулято-ров или, при необходимости, трансплантации серд-ца [11]. Также при тяжелом течении болезни дети с NARP-синдромом могут нуждаться в парентераль-ном питании и поддержании функции дыхания вплоть до искусственной вентиляции легких [15].…”