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1.
J Atten Disord ; 24(10): 1371-1376, 2020 08.
Article in English | MEDLINE | ID: mdl-26825336

ABSTRACT

Objective: This article tries to answer the question whether or not there is evidence for a relationship between celiac disease (CD) and ADHD. A review of the current literature on this topic is provided. Method: PUBMED/MEDLINE, Web of Science, and Google scholar were searched to include all published trials on ADHD and CD (no date limitation, both noncontrolled and controlled trials). In addition, the reference list of included studies was screened to find other relevant articles. Results: Eight studies report a possible association between CD and ADHD; however, the results are inconsistent. Only three out of eight studies report a positive correlation between ADHD and CD. Conclusion: Up till now, there is no conclusive evidence for a relationship between ADHD and CD. Therefore, it is not advised to perform routine screening of CD when assessing ADHD (and vice versa) or to implement gluten-free diet as a standard treatment in ADHD.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Celiac Disease , Attention Deficit Disorder with Hyperactivity/epidemiology , Celiac Disease/complications , Celiac Disease/epidemiology , Diet, Gluten-Free , Humans , Mass Screening
2.
Minerva Pediatr ; 70(3): 225-232, 2018 Jun.
Article in English | MEDLINE | ID: mdl-27607483

ABSTRACT

BACKGROUND: Chromosomal microarray analysis (CMA) has become increasingly important in the assessment of patients with autism spectrum disorders (ASD), but is sometimes restricted to patients with specific additional characteristics or comorbidities. We aim to evaluate whether certain clinical characteristics could be criteria to perform CMA and also to investigate the diagnostic value of CMA compared to other genetic analyses in our patient population. METHODS: The files of 311 children diagnosed with ASD were retrospectively analyzed. The retrieved clinical characteristics included: intellectual disability, major congenital anomalies, epilepsy, prematurity, familial history of ASD, electroencephalography, and brain MRI findings. Results of the genetic analyses, including CMA, were collected and statistical analysis was performed. RESULTS: CMA was performed in 79 patients and was found to be normal in 55 (group 1) and abnormal in 23 children (group 2). We found no statistically significant difference between groups in the presence of the clinical characteristics. The diagnostic yield of CMA (8.9%) was higher than in conventional karyotyping (1.6%) and other genetic analyses (3.8%). CONCLUSIONS: In our study, there was no significant difference in the presence of clinical characteristics in patients diagnosed with ASD who had abnormal CMA results compared to patients with normal CMA results. Therefore, the presence of these characteristics should not be used as criteria to perform CMA. Secondly, the diagnostic yield of CMA is higher than that of other genetic analyses. Our study supports the general recommendation that CMA should be offered as a first-tier test in the assessment of patients with ASD.


Subject(s)
Autism Spectrum Disorder/genetics , Chromosome Disorders/epidemiology , Congenital Abnormalities/epidemiology , Microarray Analysis/methods , Adolescent , Brain/diagnostic imaging , Child , Child, Preschool , Chromosome Aberrations , Chromosome Disorders/diagnosis , Congenital Abnormalities/diagnosis , Electroencephalography , Genetic Testing/methods , Humans , Intellectual Disability/epidemiology , Karyotyping/methods , Magnetic Resonance Imaging , Retrospective Studies
3.
Article in English | MEDLINE | ID: mdl-25071864

ABSTRACT

Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene. It is a progressive and highly heterogeneous disease, characterized by the presentation of visceral, neurological, and psychiatric symptoms. Apart from the patients that die early from organic failure, most of the patients with juvenile and adolescent/adult onset of the disease, develop neurological and psychiatric symptoms. In some cases psychiatric signs, mostly psychosis, can be the first sign of the disease. A delay in diagnosis is often seen. By describing the case of a 16-year old girl, we would like to highlight current opinion about NP-C disease and resume recent findings on the clinical presentation, diagnosis and treatment. We focus on the psychiatric signs, and most important the specific combinations that are typical for the disease. There is no curative treatment for NP-C. Miglustat is used to modify neurological signs in NP-C.

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