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NEW THIS SATURDAY: NODDING SYNDROME IN UGANDAN CHILDREN

Thursday, 12th of September 2013

NODDING SYNDROME IN UGANDAN CHILDREN—CLINICAL FEATURES, BRAIN IMAGING AND COMPLICATIONS: A CASE SERIES

BMJ Open 2013;3:e002540 doi:10.1136/bmjopen-2012-002540

Richard Idro 1 et al.

+ Author Affiliations

Abstract below; full text is at http://bmjopen.bmj.com/content/3/5/e002540.long

Objectives Nodding syndrome is a devastating neurological disorder of uncertain aetiology affecting children in Africa. There is no diagnostic test, and risk factors and symptoms that would allow early diagnosis are poorly documented. This study aimed to describe the clinical, electrophysiological and brain imaging (MRI) features and complications of nodding syndrome in Ugandan children.

Design Case series.

Participants 22 children with nodding syndrome brought to Mulago National Referral Hospital for assessment.

Outcome measures Clinical features, physical and functional disabilities, EEG and brain MRI findings and a staging system with a progressive development of symptoms and complications.

Results The median age of symptom onset was 6 (range 4–10) years and median duration of symptoms was 8.5 (range 2–11) years. 16 of 22 families reported multiple affected children. Physical manifestations and complications included stunting, wasting, lip changes and gross physical deformities. The bone age was delayed by 2 (range 1–6) years. There was peripheral muscle wasting and progressive generalised wasting. Four children had nodding as the only seizure type; 18 in addition had myoclonic, absence and/or generalised tonic–clonic seizures developing 1–3 years after the onset of illness. Psychiatric manifestations included wandering, aggression, depression and disordered perception. Cognitive assessment in three children demonstrated profound impairment. The EEG was abnormal in all, suggesting symptomatic generalised epilepsy in the majority. There were different degrees of cortical and cerebellar atrophy on brain MRI, but no hippocampal changes. Five stages with worsening physical, EEG and brain imaging features were identified: a prodrome, the development of head nodding and cognitive decline, other seizure types, multiple complications and severe disability.

Conclusions Nodding syndrome is a neurological disorder that may be characterised as probably symptomatic generalised epilepsy. Clinical manifestations and complications develop in stages which might be useful in defining treatment and rehabilitation. Studies of risk factors, pathogenesis, management and outcome are urgently needed.

Article summary

Article focus

This paper offers detailed descriptions of the clinical features and complications of nodding syndrome in Ugandan children and the electrophysiological and brain imaging features.

It also proposes a clinical staging system for the disease.

Key messages

Nodding syndrome is an epidemic neurological disorder affecting children in parts of sub-Saharan Africa that may be characterised as a probable symptomatic generalised epilepsy with features of epileptic encephalopathy.

Patients progressively develop both physical and functional deficits including multiple seizure types, cognitive and physical decline, malnutrition and psychiatric features. Five clinical stages could be identified.

The proposed clinical stages are associated with worsening cortical and cerebellar atrophy on brain imaging and more severe epileptiform and background EEG changes. These stages may be useful in guiding treatment and rehabilitation.

Strengths and limitations of this study

Although the sample size is small and there is no comparison group, this is one of the few studies so far to have carefully documented the clinical features and complications of nodding syndrome combined with extensive electrophysiology and brain imaging data, describe the natural history and the first to provide a staging system. The study patients, however, may not be representative of the population, as they were not randomly drawn from the community.

The study did not investigate the aetiology and the proposed staging was mainly derived from parental descriptions rather than prospective observations and, therefore, suffers from recall bias.

The resolution of our brain MRI is quite low.