Essential tremor among children

Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, 6550 Fannin St, Suite 1801, Houston, TX 77030, USA.
PEDIATRICS (Impact Factor: 5.47). 12/2004; 114(5):1203-5. DOI: 10.1542/peds.2004-0031
Source: PubMed


To characterize the clinical and therapeutic aspects of essential tremor (ET) among children.
ET, an autosomal dominant disorder, has been studied extensively among adults, but little is known regarding its occurrence, clinical characteristics, treatment, and prognosis in pediatric populations. Often stigmatized as a disorder of the elderly, ET may be misdiagnosed among children. Previous studies of childhood-onset ET were limited by small sample sizes.
Clinical data, including gender, age at onset, family history, associated disorders, and response to treatment, were collected for consecutive patients diagnosed with childhood-onset ET at the Movement Disorders Clinic at Baylor College of Medicine.
Of the 39 patients with ET, 29 (74.4%) were male. The mean age at onset was 8.8 +/- 5.0 years, and the mean age at evaluation was 20.3 +/- 14.4 years. A family history of tremor was noted for 79.5% of the patients. Eighteen (46.2%) had some neurologic comorbidity, such as dystonia, which was noted for 11 patients (28.2%). Only 24 of the patients (61.5%) were treated with a specific antitremor medication; 5 of the 12 patients treated with propranolol experienced improvement.
Concomitant movement disorders, such as dystonia, are common among patients with childhood-onset ET, which supports the concept that ET is a heterogeneous disorder. Treatment strategies used for adult patients with ET seem to be effective also for children with ET, although controlled therapeutic trials in this population of patients with ET are lacking.

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Available from: Joseph Jankovic, Oct 13, 2014
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    • "Although the most reasonable interpretation of the observed reductions in brain volume in the above studies is that they are due to neuronal loss (i.e., neurodegeneration with atrophy), one other possibility is that ET patients are born with smaller volumes in certain brain regions. There is no empirical support for this interpretation; furthermore, while ET can begin in childhood,43 in most cases it begins during later adulthood.1,44 "
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    ABSTRACT: Background Tissue-based research has recently led to a new patho-mechanistic model of essential tremor (ET)—the cerebellar degenerative model. We are not aware of a study that has reviewed the current neuroimaging evidence, focusing on whether the studies support or refute the neurodegenerative hypothesis of ET. This was our aim. Methods References for this review were identified by searches of PubMed (1966 to February 2014). Results Several neuroimaging methods have been used to study ET, most of them based on magnetic resonance imaging (MRI). The methods most specific to address the question of neurodegeneration are MRI-based volumetry, magnetic resonance spectroscopy, and diffusion-weighted imaging. Studies using each of these methods provide support for the presence of cerebellar degeneration in ET, finding reduced cerebellar brain volumes, consistent decreases in cerebellar N-acetylaspartate, and increased mean diffusivity. Other neuroimaging techniques, such as functional MRI and positron emission tomography (PET) are less specific, but still sensitive to potential neurodegeneration. These techniques are used for measuring a variety of brain functions and their impairment. Studies using these modalities also largely support cerebellar neuronal impairment. In particular, changes in 11C-flumazenil binding in PET studies and changes in iron deposition in an MRI study provide evidence along these lines. The composite data point to neuronal impairment and likely neuronal degeneration in ET. Discussion Recent years have seen a marked increase in the number of imaging studies of ET. As a whole, the combined data provide support for the presence of cerebellar neuronal degeneration in this disease.
    05/2014; 4:235. DOI:10.7916/D8DF6PB8
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    • "Tremor has been previously reported in XXYY, as well as in other males with SCA [Baughman, 1969; Boltshauser et al., 1978; Telfeian et al., 2000], and has generally been classified as essential tremor. Although essential tremor is common in the general adult population (4%) [Benito-Leon and Louis, 2006], it is rare in children and it is interesting that essential tremor is estimated to present in 1/500 children [Jankovic et al., 2004], the same general estimated prevalence of SCA in the population [Hook and Hamerton, 1978]. Although clearly not all children with essential tremor have SCA, the presence of essential tremor in a child with a history of learning disabilities, developmental delays, or associated physical features should prompt genetic testing. "
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    ABSTRACT: XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. We report on the results of a cross-sectional, multi-center study of 95 males age 1-55 with XXYY syndrome (mean age 14.9 years), describing diagnosis, physical features, medical problems, medications, and psychological features stratified by age groups. The mean age of diagnosis was 7.7 years. Developmental delays and behavioral problems were the most common primary indication for genetic testing (68.4%). Physical and facial features varied with age, although hypertelorism, clinodactyly, pes planus, and dental problems were common across all age groups. Tall stature was present in adolescents and adults, with a mean adult stature of 192.4 cm (SD 7.5; n = 22). Common medical problems included allergies and asthma (>50%), congenital heart defects (19.4%), radioulnar synostosis (17.2%), inguinal hernia and/or cryptorchidism (16.1%), and seizures (15%). Medical features in adulthood included hypogonadism (100%), DVT (18.2%), intention tremor (71%) and type II diabetes (18.2%). Brain MRI (n = 35) showed white matter abnormalities in 45.7% of patients and enlarged ventricles in 22.8%. Neurodevelopmental and psychological difficulties were a significant component of the behavioral phenotype, with developmental delays and learning disabilities universal but variable in severity. Twenty-six percent had full-scale IQs in the range of intellectual disability (MR), and adaptive functioning was significantly impacted with 68% with adaptive composite scores <70. Rates of neurodevelopmental disorders, including ADHD (72.2%), autism spectrum disorders (28.3%), mood disorders (46.8%), and tic disorders (18.9%), were elevated with 55.9% on psychopharmacologic medication overall. Recommendations for evaluation and treatment are summarized.
    American Journal of Medical Genetics Part A 06/2008; 146A(12):1509-22. DOI:10.1002/ajmg.a.32366 · 2.16 Impact Factor
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    • "Its prevalence increases in the elderly and may be as high as 14% in people over 65 years (Moghal et al., 1994). Rare cases have been reported in newborns and infants, but childhoodonset ET is not unusual (Jankovic et al., 2004), and $5% of new ET cases arise during childhood (Louis et al., 2005). Although prevalence among adults is similar in men and women (Louis et al., 1998), the odds of developing the disorder are 3-fold higher in boys than girls. "
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    ABSTRACT: Essential tremor (ET), the cause of which remains poorly understood, is one of the most common neurological disorders. While environmental agents have been proposed to play a role, genetic factors are believed to contribute to its onset. Thus far, three gene loci (ETM1 on 3q13, ETM2 on 2p24.1 and a locus on 6p23) have been identified in patients and families with the disorder. In addition, a Ser9Gly variant in the dopamine D3 receptor gene on 3q13 has been suggested to be a risk factor. Moreover, genetically deficient animal models express a phenotype that overlaps with some clinical characteristics of the human form of the illness. Further analyses of these genetic abnormalities may lead to the identification of causative mutations and a better understanding of the molecular mechanisms in this common movement disorder.
    Brain 07/2007; 130(Pt 6):1456-64. DOI:10.1093/brain/awm018 · 9.20 Impact Factor
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