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Nodding syndrome is a poorly understood acquired disorder affecting children in sub-Saharan Africa. The aetiology and pathogenesis are unknown, and no specific treatment is available. Affected children have a distinctive feature (repeated clusters of head nodding) and progressively develop many other features. In an earlier pilot study, we proposed a five-level clinical staging system. The present study aimed to describe the early features and natural history of nodding syndrome and refine the proposed clinical stages. This was a retrospective study of the progressive development of symptoms and complications of nodding syndrome. Participants were a cohort of patients who had been identified by community health workers and were referred for treatment. A detailed history was obtained to document the chronological development of symptoms before and after onset of head nodding and a physical examination and disability assessment performed by a team of clinicians and therapists. A total of 210 children were recruited. The mean age at the onset of head nodding was 7.5 (SD: 3.0) years. Five overlapping clinical stages were recognised: prodromal, head nodding, convulsive seizures, multiple impairments, and severe disability stages. Clinical features before the onset of head nodding (prodromal features) included periods of staring blankly or being inattentive, complaints of dizziness, excessive sleepiness, lethargy, and general body weakness, all occurring two weeks to 24 months before nodding developed. After the onset of head nodding, patients progressively developed convulsive seizures, cognitive and psychiatric dysfunction, physical deformities, growth arrest, and eventually, in some patients, severe disability. The description of the natural history of nodding syndrome and especially the prodromal features has the potential of providing a means for the early identification of at-risk patients and the prompt initiation of interventions before extensive brain injury develops. The wide spectrum of symptoms and complications emphasises the need for multi-disciplinary investigations and care.

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PURPOSE: Spasmus nutans is an acquired form of nystagmus that is classically associated with torticollis and titubations of the head, often presenting in the first year of life and spontaneously resolving within the next 2 years. The purpose of our study was to record and characterize the long-term prognosis of children diagnosed with spasmus nutans. METHODS: All patients under the age of 21 years with a diagnosis of spasmus nutans were included. Parameters of age, nystagmus symmetry and quality, presence of titubations, torticollis, and strabismus, and findings on CT or MRI were recorded. RESULTS: Our 22 patients had an average age of onset of 9.8 and a follow-up of 62.6 months. Nystagmus was unilateral in 5 children, asymmetric in 5, symmetric in 10, and inapparent in 2. Titubations were identified in 10 and torticollis in 7. Nystagmus persisted in 16 of 20 children, titubations in 3, and torticollis in 6. Neuroimaging, performed on 17 of the 22 children, was negative for any space-occupying lesions. CONCLUSION: In conclusion, we are reluctant to assure parents of children who have even the most typical spasmus nutans that their child will be normal after a predictable interval. Instead, we advise them that many children do well, assuming normal imaging, but that nystagmus, torticollis, and even titubations may persist. Follow-up, especially for strabismus and amblyopia, should be continued throughout childhood.

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Drowsiness is an awake state with increased sleep drive, yet the neural correlates and underlying mechanisms remains unclear. Here, we established a mouse model of drowsiness, where mice are fasted for 1 day and then allowed to overeat high-fat food (to promote sleep) while positioned in an open-field box (to promote vigilance). They fall into a long-lasting drowsy state, as reflected by repeated and open-eyed nodding of the head while in a standing position. Simultaneous recording of electroencephalogram (EEG) and neck electromyogram (EMG) readouts revealed that this drowsy state including nodding state had multiple stages in terms of the relationship between the level of vigilance and head movement: delta oscillations decreased in power prior to the head-nodding period and increased during the non-nodding period. Cav3.1-knockout mice, which have reduced delta oscillations, showed frequent head nodding with reduced duration of nodding episodes compared to wild-type mice. This suggests that the balance of drive is tilted in favor of wakefulness, likely due to their previously proposed decrease in sleep-promoting functions. Our findings indicate that delta oscillations play a dominant role in controlling vigilance dynamics during sleep/wake competition and that our novel mouse model may be useful for studying drowsiness and related neurological disorders.

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It has been demonstrated that bowing motion of computer-generated female three-dimensional figures enhanced perceived attractiveness. Given that nodding and shaking head motions are used as communicative signals, such as signals of approval (and denial), these motions could be expected to modulate perceived trait impressions of model faces. We used movie clips of the nodding and shaking head motions of computer-generated figures and examined the modulation effects of these motions on perceived trait impressions (i.e., attractiveness, likability, and approachability). The results showed that the nodding head motion significantly increased ratings of subjective likability and approachability relative to those of the shaking or control conditions, whereas the shaking motion did not influence the ratings. Furthermore, it was shown that a nodding head motion of the computer-generated models primarily increased likability attributable to personality traits, rather than to physical appearance. We concluded that head nodding motion is treated as information regarding approach-related motivations and enhances perceived likeability.

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BACKGROUND: Onchocerciasis has been implicated in the pathogenesis of epilepsy. The debate on a potential causal relationship between Onchocerca volvulus and epilepsy has taken a new direction in the light of the most recent epidemic of nodding syndrome. OBJECTIVE: To document MRI changes in people with different types of epilepsy and investigate whether there is an association with O. volvulus infection. METHODS: In a prospective study in southern Tanzania, an area endemic for O. volvulus with a high prevalence of epilepsy and nodding syndrome, we performed MRI on 32 people with epilepsy, 12 of which suffered from nodding syndrome. Polymerase chain reaction (PCR) of O. volvulus was performed in skin and CSF. RESULTS: The most frequent abnormalities seen on MRI was atrophy (twelve patients (37.5%)) followed by intraparenchymal pathologies such as changes in the hippocampus (nine patients (28.1%)), gliotic lesions (six patients (18.8%)) and subcortical signal abnormalities (three patients (9.4%)). There was an overall trend towards an association of intraparenchymal cerebral pathologies and infection with O. volvulus based on skin PCR (Fisher's Exact Test p=0.067) which was most pronounced in children and adolescents with nodding syndrome compared to those with other types of epilepsy (Fisher's Exact Test, p=0.083). Contrary to skin PCR results, PCR of CSF was negative in all patients. CONCLUSION: The observed trend towards an association of intraparenchymal cerebral pathological results on MRI and a positive skin PCR for O. volvulus despite negative PCR of CSF is intriguing and deserves further attention.

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An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5-15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case-control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy.

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BACKGROUND: Classic Pelizaeus-Merzbacher disease is a rare x-linked disorder of proteolipid protein expression first described clinically in 1885. This disease is characterized by abnormal eye movements, very slow motor development and involuntary movements. The causative gene is PLP1. CASE PRESENTATION: A 1-year-old boy was referred to our clinic due to abnormal eye movements. He had horizontal and flickering eye oscillation, psychomotor retardation, hypotonia and head nodding. We found hypomyelination in brain MRI. CONCLUSION: The possibility of Pelizaeus-Merzbacher disease should be considered in boys with abnormal eye movements, psychomotor retardation and hypotonia.