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Journal of Intellectual Disability - Diagnosis and Treatment

Outstretched Index Finger - A Pointer is Peculiar Behaviour Characteristic of Angelman Syndrome in Adults – A Case Series Study  - Pages 227-230

Peter Martin

DOI: https://doi.org/10.6000/2292-2598.2019.07.04.4

Published: 18 November 2019

 


Abstract: Objective: To describe a behavioural feature, the outstretched pointing (and shaking) index finger, as a clue to the clinical diagnosis of Angelman syndrome (AS) in adults.

Methods: A case series, consisting of 43 adult individuals with the clinical diagnosis of AS, approved by genetic testing is presented. In 16/43 patients the clinical diagnosis was made by the author, mostly due to behavioural signs, including the pointing gesture, which he had increasingly noticed as a behavioural key feature in his adult patients with AS.

Conclusion: Pointing with the outstretched index finger is a communicative gesture frequently seen in adult persons with AS. Its absence is most likely due to more limited motor and/or intellectual functions, in phenotypes caused by deletions of 15q11-13 respectively. It can be seen as a clinical sign that significantly contributes to the diagnosis in adulthood.

Keywords: Angelman syndrome, behavioural phenotype, index finger.

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Journal of Intellectual Disability - Diagnosis and Treatment

Suicide as a Social Problem among Young People and Adolescents in Aktobe City - Pages 231-236

Lyudmila Sergeevna Yermukhanova, Bekhzan Izbergenovich Kushimov, Azhar Nikolaevna Zhexenova, Mukhit Nauryzgaliyevych Turebaev, Nadira Kairatovna Salakhova and Ardak Zhenisbaikyzy Mukhanbediyarova
DOI: https://doi.org/10.6000/2292-2598.2019.07.04.5

Published: 18 November 2019

 


Abstract: The purpose of this article is to study the cause-effect relationship leading to suicide based on the results of two questionnaires conducted in Marat Ospanov State Medical University (Aktobe city).

Method: The study involves two questionnaire surveys (2016 and 2017 years) of 1,000 1st-4th year students of the West Kazakhstan Marat Ospanov State Medical University based on the Beck Scale for Suicidal Ideation (aimed at determination of the level of depressive state, the portrait of a suicide) and the second similar questionnaire involved 500 respondents of the same University using the Dembo-Rubinstein method in Prikhozhan’s modification, that is aimed at determining the level of self-esteem and aspiration.

Results: The questionnaires conducted in Marat Ospanov State Medical University allowed to determine the levels of suicidal behaviour among young people and adolescents of Aktobe city as well as determine the criteria, levels and reasons of suicidal intentions in percentage and by gender criterion. The results are partially presented in the form of diagrams.

Conclusions: The study may be used for developing the complex methodologies of suicide prevention among young people and adolescents in Aktobe city and everywhere in the world where such a problem arises sharply. Such a kind of study was firstly conducted with usage of declared methods in Aktobe city.

Keywords: Suicide, young people, adolescents, suicide, depression, self-esteem.

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Journal of Intellectual Disability - Diagnosis and Treatment

Investigating the Prevalence of Latent Tuberculosis among Healthcare Workers of Major Hospitals of Ahvaz, Iran - Pages 237-242

Amir Hooshang Bavarsad, Esmaiel Idani and Maryam Haddadzadeh Shoushtari

DOI: https://doi.org/10.6000/2292-2598.2019.07.04.6

Published: 18 November 2019

 


Abstract: Background and Objective: Healthcare and laboratory workers in hospitals have a higher exposure to hospital-acquired infections (HAIs) than the general populations. Tuberculosis (TB) infection is a common HAI that is communicated from the patients with TB admitted or hospitalized in the healthcare centres. This study aims to determinate the incidence and prevalence of latent TB infection among healthcare workers in the major Hospitals in Ahvaz, Khuzestan province, Iran.

Methods: This is a case-control study conducted on healthcare workers diagnosed with TB between January 2010 to December 2017. The study population consisted of healthcare workers of the three major hospitals of Ahvaz, Khuzestan including Imam Khomeini Hospital, Golestan Hospital and Shafa Hospital. All subjects underwent Mantoux tuberculin skin test (TST) and after 48 to 72 hours the reaction was measured as the length of induration. The induration equal to or greater than 10 mm was considered as positive TB. Moreover, the subjects and controls were asked to complete a self-administered questionnaire on potential risk factors for TB.

Results: Among 513 subjects, male and female subjects were respectively 186 and 327. Of all subjects, 67 subjects (male: 42; female: 25) showed positive TST (10 mm ≤ induration) and 275 subjects showed 5 mm >induration. There was a significant relationship between TST result and the workplace of the subjects. Gender showed no significant relationship with the TST result.

Conclusion: All healthcare workers who are in direct contact with TB patients must undergo regular TB screening test and the workers should be trained for self-conducting TST.

Keywords: Tuberculosis (TB), healthcare workers, laboratory workers, prevalence, Ahvaz.

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Journal of Intellectual Disability - Diagnosis and Treatment

Does Late-Onset Huntington Disease Represent a Distinct Symptomatic Picture? Evidence for a Selective Deficit in Executive Function and Emotion Recognition, in the Absence of Behavioral and Psychiatric Disorders - Pages 243-250

Maria Cristina Cossu, Matilde Conti, Veronica Di Palma, Maddalena Boccia, Umberto Sabatini and Cecilia Guariglia
DOI: https://doi.org/10.6000/2292-2598.2019.07.04.7
Published: 18 November 2019

 


Abstract: Huntington Disease (HD) is an autosomal-dominant, neurodegenerative disorder, including motor, cognitive, emotional and behavioral symptoms. Motor symptoms used to set the clinical onset, typically emerge in the middle age. Here, we describe the case of a patient, who received a genetic diagnosis at 75 years and developed motor symptoms at 80. The Patient shows severe motor symptoms in the absence of personality changes or psychiatric disorders typically observed in HD. For what attain neuropsychological profile, it results unaltered apart from a specific deficit in emotion recognition and general slowness on executive functioning tasks, reflecting a specific trade-off between accuracy and rate of performances, that is a selective impairment in fine-tuning of resources. Both of these deficits in the Patient could be ascribable to the frontostriatal atrophy, evidenced by Computed Tomography. While deficit in emotion recognition is a well-known symptom in HD, a deficit in fine-tuning of resources regards a specific aspect of executive function. The ability of fine-tuning resources is the latest step in the development of executive functions, and it could be also the first level to be impaired in HD. We proposed that deficit in fine-tuning of resources could be the core of the neuropsychological deficit in late-onset HD.

Keywords: Huntington's chorea, Affective Processing, Cognition, Late-onset Huntington’s disease.

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