Ulrika Löfkvist, Ass.Professor, SLP, LSLS cert. AVEd University of Oslo Arvika,
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1 Medfödd Cytomegalovirusinfektion inte bara en vanlig orsak till hörselnedsättning utan även balanssvårigheter och kognitiva funktionsnedsättningar Ulrika Löfkvist, Ass.Professor, SLP, LSLS cert. AVEd University of Oslo Arvika,
2 Cytomegalovirus
3 It s not the hearing that is the problem
4 Etiologi - orsak ACMG statement (2002) Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital hearing Loss, May/June, vol:4, no:3 Genetics in Medicine
5 Tidpunkt för identifikation En hörselnedsättning kan försena identifikation och diagnos av andra tilläggssvårigheter/diagnoser (man skyller på hörseln) Autism diagnosticeras ca 0.8 år senare hos barn med Hsn* En tilläggsdiagnos eller faktor som t ex flerspråkighet kan försena identifikation av en hörselnedsättning/dövhet (man skyller försenad språkutveckling på annan diagnos eller t ex flerspråkighet) *Mandell et al Pediatrics 2005:116:
6 Congenital Cytomegalovirus infection = a common cause of hearing impairment Asymptomatic in % av CMV infected infants but % are at risk for later deficits like e.g. hearing loss Prevalence: 0.4-2,5 % have congenital CMV infection (epidemiological factors varies in different countries) Cause: Herpes-related virus-infection transmitted to the fetus or infant (placenta or when breastfeeding) Diagnosis: saliva or urine sample in very young children (at birth) or Dried Blood Spoots (DPS) if later diagnosis
7 Symptomatic 10 % Asymptomatic 90 % 1 or more deficits at birth SNHL at birth Pass OAE-screening Progressive SNHL
8 Lessons learned from a CMV-conference, Salt Lake City (26-27/9) 2014 and Venice (24-26/4) 2016 ccmv is common lack of knowledge in the public ccmv is severe we have only seen the top of the iceberg yet ccmv is one of the most common causes of hearing impairment There is no vaccin (yet) and the impact and restrictions of antiviral medicine is not fully understood (side effects) ccmv is preventable women needs to be informed!
9 ccmv-caused Hearing Impairment HL: from mild to profound, congenital or progressive, unilateral or bilateral Around 15 % of all Swedish children with hearing impairment = ccmv (Karltorp, 2013) Other issues than HL (symptomatic and asymptomatic): cognitive and perceptual impairment including vision, delayed motor development including oral motor skills, autism spectrum disorder, mental retardation (Malm, 2007;Pyman et al., 2000)
10 Previous studies - language development in children with ccmv infection Few studies have explored the role of ccmv for spoken language abilities in children with ccmv infection Great variability in speech intelligibility (Ramirez & Nikopoulos, 2004) Oral motor deficits (Malm, 2007) Slower development in language understanding (Yoshida et al, 2009) Clinical finding: GREAT overall variability in language and cognitive outcome
11 Karltorp, E., Löfkvist, U., Lewensohn-Fuchs. I., Lindström, K., Eriksson Westblad, M., Teär Fahnehjelm, K., Verecchia, L., Engman, M-L. (2014). Impaired balance and neurodevelopmental disabilities among children with congenital cytomegalovirus infection, Acta Paediatrica Aim To evaluate the potential comorbid conditions among children with HI resulting from ccmv infection To compare with children with HI caused by GJB2 (Connexin 26) mutations
12 Methods Study group: 26 children with ccmv infection and CI, 1-16 years of age Controls: 13 children with Cx26 mutations and CI, 1-12 years of age
13 Connexin 26 A common congenital genetic cause of deafness Non-syndromic No cognitive delays (due to etiological factors) No deformation of the cochlea Early identification (OAE) 13 Lexikal and Semantisk utveckling hos barn med cochleaimplantat,
14 Neonatal symtoms: 6/26 Results Head issues: 23/26 Age of walking: 19 months (12 months) Movement ABC: 10 (45)
15 Results Low vestibular function: 10/11 Feeding problems: 46 % (0 %) Visual disability: 20 % (0 %)
16 Neurological disabilities Autism spectrum disorder = 4 ADHD = 2 ( 2 under investigation) Language impairment = 2 Oral motor disorder = 4 (1 Cx26)
17 Unexpected clinical findings Executive functions Impaired impulse control Low attention span
18 Conclusion More disabilities than expected Balance impairment, feeding problems General ccmv sceening is needed
19 Ongoing & future studies Follow up ccmv and Cx26 Executive functioning & Pragmatic skills Twin study Intervention studies
20 Executive Functioning EF= the ability to inhibit irrelevant information, to update the cognitive system with new, incoming information and to shift between different sources of information (Diamond, 2013) EF= connected to frontal lobe capacity (Kave et al., 2008) Higher-level aspects of EF are not fully matured until early adulthood (Diamond, 2013) EF abilities enable individuals to pay attention to what they hear, what the expectations of them are in certain situations, stick to rules and stay focused in communication or while performing a verbal or non-verbal task (Miyake and Friedman, 2012)
21 Material and method Broad assessment, interdisciplinary team approach Executive functioning (BRIEF - questionnaire, T-EACH) Pragmatic skills (CCC-2 - questionnaire) Speech recognition (quiet and noise) Vocabulary (Boston Naming Test, FAS, Animal, Kent-Rosanoff) Non-verbal cognitive ability (Ravens) General working memory (SIPS) Social wellbeing (SDQ)
22 Preliminary results Participants: children with ccmv infection and controls with cx26-caused hearing impairment Variables ccmv (n=14) Cx26 (n=8) Age months 107 (54-167) 103 (57-175) Speech recognition (quiet) % 81 (64-100) 82 (64-100) Speech recognitin in noise % 54 (32-72) 56 (32-68) Expressive vocabulary (BNT) 33 (0-52) 37 (22-52) Non-verbal cognitive ability (Ravens) 25 (14-34) 28 (14-35)
23 BRIEF prel. data: Exekutiva funktioner
24 CCC-2; Prel. Data: Kontext/sammanhang i kommunikation
25 Discussion Children with ccmv infection had age-appropriate language and non-verbal cognitive ability but showed atypical EF and pragmatic skills in comparison to norms and controls with cx26- caused HI Children with ccmv infection and HI might have affected learning ability and social interaction skills thatis not related to hearing- or non-verbal cognitive ability Small samples multicenter studies are needed
26 General implications for intervention and treatment ² BROAD Early Intervention program prevention Look for Red flags ² Regular hearing assessments in children with ccmv (progressive HL) - TEAM approach important ² Include cognitive tests in follow-up assessment ² PREVENTION ACTIONS
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