ࡱ> OQN)` bjbj .({{DDDDX,MLLLLLLL$NhQnLsssLL]]]sL]sL]]kJCL Q4DsFK,LL0ML,pQvpQXCLCL"pQeL("]LL/.Mssss   Guidelines for aetiological investigation into severe to profound permanent hearing loss in children Ӱ Ӱ Foundation Trust August 2015 (as per British Association of Audiovestibular Physicians and British Association of Paediatricians in Audiology 2008) Level 1 investigations: (Level 1 investigations should be considered for every child) 1) Paediatric history: Detailed history of: onset of symptoms, pregnancy, delivery and postnatal period developmental milestones including: speech, language, motor milestones as well as social development History of exposure to risk factors e.g.: noise ototoxic medications/ radiation head injury ear disease meningitis bacterial and viral illness immunisation status family history of deafness or risk factors associated with hearing loss in first and second degree relatives History of consanguinity and ethnic origin 2) Clinical Examination: General height, weight and head circumference inspection of craniofacial region Examination of ears, neck, skin and nails, limbs, chest, abdomen and gait 3) Family audiograms: Parents and first degree relatives 4) Electrocardiography (ECG): for prolongation of the (corrected) QT interval Abnormal: QTC > 460 (f) ; QTC > 450 (m) essential in children with evidence of vestibular hypofunction which may manifest as delayed motor milestones e.g. head lag, delayed sitting without support and walking 5) Ophthalmological assessment: assessment of visual acuity (where possible) and fundoscopy discussion of electro-retinography with ophthalmologist if motor milestones are delayed to detect Usher type 1 6) Urine examination (labstix) for microscopic haematuria 7) CMV screen < 1year of age Urine CMV DNA PCR x 2 (separate occasions): if positive, request Guthrie card for CMV DNA testing >1 year of age Urine CMV DNA PCR and / or IgG if either positive, request Guthrie card for CMV DNA testing If sending for Guthries consent from parents should be obtained 8) Blood test for Connexin 26 mutation / refer genetics team 9) MRI of Internal Auditory meati or CT Scan of Petrous Temporal bone Level 2 investigations: (Indicated from history and clinical findings) 1) Serology: Eg. Toxoplasma, Rubella, HSV, Syphilis to exclude congenital infection to include maternal stored (booking) serum 2) Haematology and Biochemistry (where clinically indicated) e.g. Thyroid Function tests indicated if: Family history of thyroid disease Goitre present Widened vestibular aqueduct or Mondini deformity of Cochlea 3) Investigation into autoimmune diseases where clinically indicated 4) Metabolic Screen on blood and urine: where clinically indicated 5) Renal ultrasound: If child has preauricular pits or sinuses, deformity of ear, branchial cleft or cysts Mondini defect on imaging. Permanent conductive or mixed hearing loss 7) Clinical photography 8) Chromosomal studies: History of developmental delay Dysmorphic features 9) Further genetic testing if indicated after discussion with the Geneticist Consider referral to Clinical Geneticist especially parents are consanguineous, syndrome is suspected, child has multiple problems parental request opinion required on interpretation of genetic mutation testing After completion of investigations if a genetic disorder is diagnosed or no cause has been identified. 10) Vestibular investigations: (often this is a clinical assessment, rather than formal vestibular function testing via audiology difficult if very young) Consider in all cases where motor milestones are delayed or where there is progressive deafness AU   ^ u s ) ? b QzϾ{l{{{{[{[{l h>bh>bCJOJQJ^JaJh>bh>bCJOJQJaJ&h>bh>b5CJOJQJ\^JaJ h>bh>bCJOJQJ^JaJh>bh>bOJQJ^J!h>bh>b5>*OJQJ\^J hsa5CJOJQJ\^JaJ hsah>bCJOJQJ^JaJhsahsa5>*OJQJ^Jhsah>b5>*OJQJ^Je ^ u / Y `  & Fdd[$\$gd>b@ dd[$\$^@ gd>b & Fdd[$\$gd>b & Fdd[$\$gd>bdd[$\$^gd>b dd[$\$gd>b$dd[$\$a$gd>b G s ) b z & F dd[$\$gd>b & F dd[$\$gd>b & Fdd[$\$gd>bpdd[$\$^pgd>b & Fdd[$\$gd>b & Fdd[$\$gd>b dd[$\$gd>b & Fdd[$\$gd>b & Fdd[$\$gd>b Q <z> & F dd[$\$gd>b & F dd[$\$gd>b & F dd[$\$gd>bpdd[$\$^pgd>bdd[$\$^gd>b & F dd[$\$gd>b dd[$\$gd>b & F dd[$\$gd>bz>?V' $Jg|I / òաաաաաաաՐh>b h>bh>bCJOJQJ^JaJ h>bh>bCJOJQJ^JaJ!hsah>b5>*OJQJ\^J#hsa5>*CJOJQJ\^JaJ&h>bh>b5CJOJQJ\^JaJ,h>bh>b56CJOJQJ\]^JaJDo$g|3K & Fdd[$\$gd>b & Fdd[$\$gd>b & Fdd[$\$gd>b & Fdd[$\$gd>bpdd[$\$^pgd>b dd[$\$gd>bKk6Se / pdd[$\$^pgd>b & Fdd[$\$gd>b & Fdd[$\$gd>b dd[$\$gd>b & Fdd[$\$gd>b,1h. 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