**8. Guidelines for the recognition of patients with mitochondrial DNA disease**

Guidelines for recognition of patients with mitochondrial DNA disease should include the detection of the classic syndromes; however, in non-syndromic cases, may be useful the recognition of characteristic clinical features (for example, myoclonus) or specific combinations of symptoms (for example, strokes and migraine and seizures and ataxia). Typically, in the mitochondrial encephalopathies, the observed symptoms may be referred to the involvement of many organ systems, for example, diabetes and deafness.

Besides the clinical observation, characteristic MRI findings may orientate the diagnostic work-up.

Laboratory exams should include the determination of the lactic acidaemia, which is frequently elevated in children in case of mitochondrial encephalopathy. Finally, the muscle biopsy may reveal ragged-red fibres or cytochrome c oxidase-deficient fibres. (Falk, 2010)

Among other symptoms, epileptic presentation may include isolated seizure or isolated status, intermittent seizures or status, severe epilepsies, focal or multifocal epilepsies, generalized seizures and myoclonus (mainly progressive myoclonus epilepsies).

Though not always associated with MEs, myoclonus, epilepsia partialis continua, status epilepticus and intractable epilepsy should be considered common symptoms of these disorders.

### **9. References**


**8. Guidelines for the recognition of patients with mitochondrial DNA disease**  Guidelines for recognition of patients with mitochondrial DNA disease should include the detection of the classic syndromes; however, in non-syndromic cases, may be useful the recognition of characteristic clinical features (for example, myoclonus) or specific combinations of symptoms (for example, strokes and migraine and seizures and ataxia). Typically, in the mitochondrial encephalopathies, the observed symptoms may be referred

Besides the clinical observation, characteristic MRI findings may orientate the diagnostic

Laboratory exams should include the determination of the lactic acidaemia, which is frequently elevated in children in case of mitochondrial encephalopathy. Finally, the muscle biopsy may reveal ragged-red fibres or cytochrome c oxidase-deficient fibres.

Among other symptoms, epileptic presentation may include isolated seizure or isolated status, intermittent seizures or status, severe epilepsies, focal or multifocal epilepsies,

Though not always associated with MEs, myoclonus, epilepsia partialis continua, status epilepticus and intractable epilepsy should be considered common symptoms of these

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Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW. MELAS associated with mutations in the POLG1 gene. Neurology 2007;68: 1741-1742. Desguerre I, Pinton F, Nabbout R, Moutard ML, N'Guyen S, Marsac C, Ponsot G, Dulac

disorder due to T8993G MT DNA mutation. Neuropediatrics. 2003;34:265-9. Falk MJ. Neurodevelopmental manifestations of mitochondrial disease. J Dev Behav Pediatr.

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Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. Myoclonus epilepsy associated with

Lodi R, Zaniol P, Zeviani M. Epilepsia partialis continua associated with NADH-

Savoiardo M, Uziel G, Villani F, Zeviani M, Avanzini G. Epileptic phenotypes

Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, DeVivo DC, Rowland LP, Schon EA, DiMauro S. MELAS: clinical features,

O. Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial

ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome?

to the involvement of many organ systems, for example, diabetes and deafness.

generalized seizures and myoclonus (mainly progressive myoclonus epilepsies).

coenzyme Q reductase deficiency. J Neurol Sci. 1995;129:152-61.

associated with mitochondrial disorders. Neurology. 2001;56:1340-6. Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C,

biochemistry, and molecular genetics. Ann Neurol 1992;31: 391-398.

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**1. Introduction** 

**1.2 Methods** 

**1.3 Results** 

**1.4 Conclusions** 

male patients.

patients with epilepsy.

**1.1 Background and purpose** 

western countries as compared to the Asian countries.

psychosocial status and adjustment within the family and society.

**2. Epileptic patients with social and psychological issues** 

**16** 

Tai Sharon

*Malaysia* 

*University of Malaya* 

**Social and Psychological Issues** 

Patients with epilepsy commonly have associated psychological, psychiatric and social issues. The objective is to look into the psychosocial problems that are encountered by the

The literature on psychosocial issues of patients with epilepsy will be reviewed. The differences of the issues between the two genders are also explored. We also would like to look into the literature regarding the differences in the social and psychological issues in the

A high number of patients with epilepsy have depressive illness and psychosis. They also have higher rate of suicidal attempts or ideation. They also have negative social skills and impaired coping mechanisms. Unemployment and higher anxiety states are more frequent for women with epilepsy as compared to men with epilepsy. Female patients have more difficulty finding life partners and have higher rate of divorce compared with males. Women with epilepsy rarely use constructive coping methods, and thus have poor

Patients with epilepsy have higher risk of psychiatric problems with behavioural changes. Female patients tend to have more mood disorders and social problems in comparison to

Epilepsy is a common illness in the world. Epilepsy affects 50 million people worldwide. (1) Epilepsy is a chronic illness. The disease results 1% of days lost to ill health globally. (2) Epilepsy is characterised as recurrent, intermittent seizures unprovoked by any acute medical condition or transient brain disorder. (2) Epilepsy is the fourth most common

neurologic disease. (3) One in 26 people develops epilepsy during the lifetime. (3)

**in Patients with Epilepsy** 

