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Irish Child Health Database - Peer Reviewed Papers

Database Search

How to use this database.

• Method 1- uses a free natural language approach.

  After choosing the object of the search – by ticking title, abstract, aims and objective, or author - enter a term, word or name in the ‘Search’ box to return references answering your research question.

• Method 2 - utilises key words.

  Those key words assigned from thesauruses of controlled vocabulary by the trained coders of international bibliographic databases.
  The controlled vocabularies key word are listed alphanumerically under 'Bibliographic database keywords' .
  Use the drop down menu to identity which 'key words' you are interested in to return references to answer your research question.

• Method 3 - is based on the indexing system

  developed by the researchers who compiled this database.
  It adopts a thematic approach to mapping Irish child health research. The themed areas represent outcomes mapped to the International Classification of Disease version 10 (ICD-10) or one of 23 other health-related themed outcomes. Themes are defined in Tables 5 to 7 (of the study report).
  Use the alphabetic drop down menu under ‘ICD-10 or themed health-related outcomes’ to identity which themed areas you are interested in to select references to answer your research question.

• Method 4 – allows papers to be searched by Study type.

  Indexing by study type offers a valuable insight into understanding the population impact of the topic of interest. More than 20 study types were identified across the 2,152 study papers. These are defined in Table 3 (of the study report). Within 'Study type' papers are further stratification by geographical region (Table 49), topic area of interest and study aims and objectives.
  Click on 'Study type' to select the type of study of interest, progressively select sub-categories by topic area or other sub-classification of interest to answer your research question.

The complete background, methods and findings from this mapping exercise are detailed in the study report.

Mutation/genetics

Your search returns 6 documents

• 1.   Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness

  The aim of this study was to examine on connexin 26 gene-related deafness mutation analysis along with speech discrimination assessment was undertaken to assess the impact of pediatric cochlear implantees on these disabilities

  

  Abstract:

  HYPOTHESIS: Auditory perception and speech discrimination among pediatric cochlear implantees may vary because of underlying deafness etiology, including connexin 26 (GJB2) gene-related deafness. BACKGROUND: Preliminary data suggest pathologic changes due to GJB2 mutations do not affect the spiral ganglion cells, which are stimulated by the cochlear implant. The survival of the spiral more...

  International Classification:

  Diseases of the ear and mastoid process - Other disorders of ear - deafness

  Categories:

  deafness; cochlear implant

  Geography:

  Northern Ireland

  Otol Neurotol, Vol: 25 Page: 930-4 November 2004
  A. R. Sinnathuray; J. G. Toner; A. Geddis; J. Clarke-Lyttle; C. C. Patterson; A. E. Hughes

  [Preview] [Read]

• 2.   Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

  This study aimed to explore current practice in the molecular diagnosis of haemochromatosis and draft guidelines were prepared using the template developed by the United Kingdom Clinical Molecular Genetics Society

  

  Abstract:

  BACKGROUND: Hereditary haemochromatosis (HH) is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations. Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y) of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position more...

  International Classification:

  Practice/knowledge - Symptoms, signs and abonormal clinical and laboratory findings not elses were classified-haemochromatosis

  Categories:

  molecular diagnosis of haemochromatosis

  Geography:

  Republic of Ireland

  BMC Med Genet, Vol: 7 Page: 81 2006
  C. King; D. E. Barton

  [Preview] [Read]

• 3.   Connexin 26 (GJB2) gene-related deafness and speech intelligibility after cochlear implantation

  The aim of this study was to examine the hypothesis that speech intelligibility in children after cochlear implantation may depend on their deafness cause, including connexin 26 (GJB2) gene-related deafness

  

  Abstract:

  HYPOTHESIS: Speech intelligibility in children after cochlear implantation may depend on their deafness cause, including connexin 26 (GJB2) gene-related deafness. BACKGROUND: There is significant variability in the degree of intelligibility, or clarity, of children's speech after cochlear implantation. GJB2 gene-related deafness may be a factor, as preliminary data suggest that more...

  International Classification:

  Diseases of the ear and mastoid process - Other disorders of ear - deafness

  Categories:

  deafness; cochlear implant

  Geography:

  Northern Ireland

  Otol Neurotol, Vol: 25 Page: 935-42 November 2004
  A. R. Sinnathuray; J. G. Toner; J. Clarke-Lyttle; A. Geddis; C. C. Patterson; A. E. Hughes

  [Preview] [Read]

• 4.   Dopaminergic system genes in ADHD: toward a biological hypothesis

  The aim of this study was to examine issues about dopaminergic system genes in attention-deficit hyperactivity disorder and generate biological hypothesis

  

  Abstract:

  Converging evidence has implicated abnormalities of dopamine neurotransmission to the pathology of attention deficit hyperactivity disorder (ADHD). Several genetic association studies have been published, but so far, no DNA variants have been unequivocally demonstrated as contributing to ADHD susceptibility. Four dopamine related gene loci have been implicated, however: DAT 1, DRD 4, more...

  International Classification:

  Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder

  Categories:

  attention-deficit hyperactivity disorder

  Geography:

  Republic of Ireland

  Neuropsychopharmacology, Vol: 27 Page: 607-19 October 2002
  A. Kirley; Z. Hawi; G. Daly; M. McCarron; C. Mullins; N. Millar; I. Waldman; M. Fitzgerald; M. Gill

  [Preview] [Read]

• 5.   Inherited deafness in childhood--the genetic revolution unmasks the clinical challenge

  This article discusses inherited deafness in children

  

  Geography:

  Republic of Ireland

  Arch Dis Child, Vol: 82 Page: 319-21 April 2000
  W. Reardon; R. F. Mueller

  [Preview] [Read]

• 6.   No association between TPH2 gene polymorphisms and ADHD in a UK sample

  The aim of this study was to examine four single nucleotide polymorphisms two of which (rs1843809, rs1386493) were reported to associate with attention-deficit hyperactivity disorder

  

  Abstract:

  Tryptophan Hydroxylase 2 (TPH2) is the rate-limiting enzyme in the biosynthesis of serotonin which is exclusively expressed in the brain. Recent molecular studies reported significant association between markers mapped to TPH2 and psychiatric conditions including ADHD. We have examined four single nucleotide polymorphisms (SNPs) two of which (rs1843809, rs1386493) were reported to more...

  International Classification:

  Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder

  Categories:

  attention-deficit hyperactivity disorder

  Geography:

  Republic of Ireland

  Neurosci Lett, Vol: 412 Page: 105-7 January 2007
  K. Sheehan; Z. Hawi; M. Gill; L. Kent

  [Preview] [Read]