Ae#ology(of(late(onset(and(progressive(hearing(losses(BAPA(London(Conference(Thursday(28th(January(2016(

Dr(Deirdre(Lucas,(Consultant(in(Audioves#bular(medicine(Nuffield(Hearing(and(Speech(Centre(

Deirdre.lucas@nhs.net(

Outline(of(presenta#on(

•  Defini#ons(•  Who(–(which(children?(

•  How(do(they(tell(us?(•  When?(

•  Why?(

•  Diagnosis(•  Inves#ga#on(

defini#ons(

•  Diagnosis((greek(–(discern/dis1nguish)(

•  ([di�agSno´sis](1.(determina#on(of(the(nature(of(a(cause(of(a(disease.(

•  2.(a(concise(technical(descrip#on(of(the(cause,(nature,(or(manifesta#ons(of(a(condi#on,(situa#on,(or(problem.(adj.,(adj(diagnos´#c.(

•  clinical(diagnosis(diagnosis(based(on(signs,(symptoms,(and(laboratory(findings(during(life.(

•  Ae1ology((greek(–(giving(a(reason(for)(•  (1)(As(commonly(used(in(medical(prac#ce,(

cause.((2)(A(branch(of(knowledge(concerned(with(the(causes(of(par#cular(phenomena;(specifically,(a(branch(of(medical(science(concerned(with(the(causes(and(origins(of(diseases.(This(defini#on(is(rarely(used(in(the(working(parlance.(Segen's(Medical(Dic#onary.(©(2012(Farlex,(Inc.(All(rights(reserved.(

•  e=1=ol=o=gy(•  (ē'tēSol'ŏSjē)(1.(The(science(and(study(of(the(

causes(of(disease(and(their(mode(of(opera#on.((Compare:(pathogenesis(

•  2.(The(science(of(causes,(causality;(in(common(usage,(cause.((Synonym(s):(ae#ology.((

•  [G.(ai%a,(cause,(+(logos,(trea#se,(discourse](

Defini#on(of(Progressive(Hearing(Loss(

•  A(deteriora#on(of(more(than(10dBHL(at(2(or(more(frequencies(or(a(deteriora#on(of(15dBHL(at(one(frequency(without(middle(ear(dysfunc#on.(

•  The(deteriora#on(should(be(recorded(on(more(than(one(occasion(to(exclude(fluctua#on((ie,(hearing(is(gehng(worse(

Taken(from:(Brookhauser((et(al(Fluctua#ng(and/or(progressive(sensorineural(hearing(loss(in(children(Laryngoscope2104;2958:29642(1994)((

How(do(we(find(out?(•  Says(it’s(worse(•  Parents(say(it’s(worse(•  Found(on(repeat(tes#ng(•  Hearing(aids(not(working(•  Behaviour:(naughty,(withdrawn,(noisy,(irritable,(reject(hearing(aids,(stop(

signing(•  Poor(school(performance(•  Speech(clarity(beker(or(worse(than(expected(•  Difficult(to(test(•  Ill(•  Tinnitus,(ver#go(•  Nothing:(asymptoma#c(

•  Watch(out(for(those(less(than(2(yrs,(less(than(4(yrs,(less(than(6(yrs,(more(than(10(yrs(

Why(are(we(trying(to(find(out?(

•  Iden#fy(promptly(any(child(who(has(progressive(hearing(loss(

•  Offer(appropriate(interdisciplinary(assessment(and(support(

•  Answer(the(ques#ons(•  Establish(cause(•  Ins#tute/plan(treatment/management(tailored(to(each(child(and(family’s(needs(

Impact(

•  Ask(child(•  Gillick(

•  Stress(and(shockSchild(and(parents(•  Willingness(to(talk,(communica#on,(confidence(•  Self(esteem,((self(blame)(•  Unpredictable(nature(of(progression(•  Aspira#ons(for(the(future(•  Educa#on(

•  Review(siblings(

How(common(is(PSNHL?(

(((((((((((((2S32%(children(with(PCHI(

•  6%(of(365(–(10dB((+(57%(fluctua#ng(and(prog.((Brookhouser(et(al(1994)(

•  32%(of(106(–(10dB((Walch(et(al(2000)((

•  16%(of(138(–(10(dB((Parving(1988)(

•  (2S4%(of(138(–(15dB((Parving(1988)((•  (9%(of(177(–(15dB((Newton(and(Rowson(1988)(•  (6.2%(of(178(–(20dB((Berrehni(et(al(1999)(

•  (688(of(1373(S(20dB(Johanssen(et(al(2004)(

•  (22.8%(of(92((((Levi(et(al(1993)(

Which(children(and(when?(

•  Those(already(known(to(have(PCHI(•  New(presenta#on(having(passed/not(had(NHSP(•  Following(a(recognised(adven##ous(illness/injury(•  Bolt(from(the(blue(•  Spurious((NonSorganic)(

•  Is(age(of(child(important?(–(most(progression(occurs(in(early(years(of(life((under(6)(

•  Can(we((always)(differen#ate(between(late(onset(and(progressive?(

•  Can(we(predict(progression?(

Diagnos#c(categories(

•  Gene#c((which(may(be(late(onset)(

•  Infec#on((ante(or(postnatal(and(may(be(late(onset)(

•  Systemic(disorders((gene#c(and(acquired)(

•  Ototoxicity(•  Trauma(

•  Other(

(History(

•  Details(of(deteriora#on((from(child(if(possible)(

•  Precipita#ng(event(if(any((head(injury,(illness,(accident)(

•  Noise(or(drug(exposure(•  Assoc.(symptoms((headache,(ver#go,(#nnitus,(noise(sensi#vity,(vision,(balance)(

•  Previous(episodes(+(relief/exacerba#ng.(•  Iden#fy(other(problems(e.g.(vision,(painful(joints,(rash,(renal(

(History(cont.(

•  Review(history(of(hearing(loss(

•  Review(obstetric(and(past(medical(history(

(((((((((((((((((((((((Unexplained)(illness(in(pregnancy(((((((((((((((((((((((Ototoxic(medica#on(((((((((((((((((((((((Severe(neonatal(respiratory(illness(((((((((((((((((((((((Life(threatening(illness(((((((((((((((((((((((Developmental(milestones(

•  Review(the(diagnosis(already(made.(

•  Review(the(family(history((((((((((((((((((–(more(specific(ques#ons?(

•  Results(of(previous(inves#ga#ons(

Clinical(examina#on(

Clinical(part(((((((((((((((((((((Looking(for(Inspec%on2of2head/face22222222222Unusual(features,sehng,(symmetry,(#lt(

External2ear2anomalies2222222222222Sehng,(shape,(preauricular(pits/sinuses,((

((((((((((((((((((((((((((((((((((((((((((((((((((((((((((((((((((((epidermoids(

Eyes2(((((((((((((((((((((((((((((((((((((((((((((Sehng,(shape,(sinuses,(colour,(cataract,(((((((((((((((((((((((((((((((((((((((((((((((((((((((((((((((coloboma,(re#nal(examina#on((

Nose(((((((((((((((((((((((((((((((((((((((((((((Root,(shape,(nostrils(

Palate(((((((((((((((((((((((((((((((((((((((((((Cleu((

Neck(((((((((((((((((((((((((((((((((((((((((((((Branchial(pits(and(sinuses,(goitre,(((((((((((((((((((((((((((((((

((((((((((((((((((((((((((((((((((((((((((((((((((((((((((((webbing,(head(#lt(((((((((((((((((((((((((((((((((((

Clinical(examina#on(cont.(Teeth22((((((((((((((((((((((((((( (Shape,(number,(stage(of(den##on(Skin222((((((((((((((((((((((((((((( (Len#gines,(café(au(lait(spots,(freckling(in(the(((

((((((((((((((((((((((((((((((((((((((((( (axillae,(haemangiomata,(dryness,(erythema(Spine(((((((((((((((((((((((((((((( (Scoliosis,(kyphosis(

Cardiovascular222((((((((((((( (Heart,(pulses,(blood(pressure(Hands2and2feet(((((((((((((((((Polydactyly,(creases,(webbing,(other(digital((

(((((((((((((((((((((((((((((((((((((((((((anomalies,(nails(Hair2(incl2eyebrows)22222222(Colour,(texture,(distribu#on(

Neurology((((((((((((((((((((((( (General(neurological(examina#on(including(((((((((((((((((((((((((((((((((((((((((((((cranial(nerves(and(peripheral(reflexes(Neurotology22((((((((((((((((((((Gait,(balance,(eye(movements,(fistula(test(

First2degree2rela%ves2222222 (General(physiognomy(

Diagnos#c(categories(

Gene#c((which(may(be(late(onset)(Infec#on((ante(or(postnatal(and(may(be(late(onset)(Systemic(disorders((gene#c(and(acquired)(Ototoxicity(Trauma(Other(

Some(gene#cally(determined(causes(

•  Autosomal(dominant:(syndromic((eg.(BOR);(nonSsyndromic(

•  Recessive(eg(Pendred,(Cx26,(nonSsyndromic,(Usher(III(

•  XSlinked:(perilymph(gusher(

•  Mitochondrial(disease.?4.2S7.5%(late(onset;(42%(children(have(SNHL(

•  Chromosomal(anomalies:(Down,(Turner(

•  Progressive(conduc#ve(hearing(loss:(gene#c((otosclerosis,(NOG(1,(progressive(stapes(ankylosis),(due(to(middle(ear(disease.(

•  Auditory(Neuropathy(Spectrum(Disorder((BVVL,(CAPOS)(

Autosomal(dominant(

Family(history(–(not(always,(35%(fresh(muta#on(eg(CHARGE)(Now(some(30(genes(iden#fied,(mostly(on(specific(families(

Mostly(nonSsyndromic(but(

May(have(syndromic(features(if(we(know(how(to(look(Ouen(similar(pakern(of(onset/change(to(parent(

Enlarged(endolympha#c(ducts(

•  Pendred(syndrome(•  BranchioSotoSrenal(syndrome(•  OculoSauriculoSvertebral(dysplasias(•  Renal(tubular(acidosis(•  CHARGE(associa#on(

Perchlorate(washout(tes#ng(

Gene#cally(determined(systemic(disorders(and(late(onset(hearing(loss(•  Bone(disease(((osteogenesis(imperfecta(50%,(cleidocranial(dysostosis(1:100000)(

•  Renal(disease((Alport(syndrome)(

•  Unrecognised(developmental((Norrie)((

•  Eye(disorders((Mohr(Tranebjerg)(

•  MPS((type(IV(Morquio)(

•  Glycosphingolipidoses((Fabry(Disease)(•  Bio#nidase(def(

Mitochondrial(disease(

•  Progression(does(not(correlate(with(severity(or(phenotype(of(disease(

•  High(freq(start(in(30S50%(S(usually(symmetrical(

•  May(be(the(only(sign(of(disease(for(several(weeks/months(

•  Don’t(always(have(a(family(history(

•  Ouen(thought(to(be(nonSorganic(

•  MELAS((mitochondrial(myopathy,(encephalopathy,(lac#c(acidosis,(stroke(like(episodes),(MIDD((maternally(inherited(diabetes(and(deafness)(,(MERRF((myoclonic(epilepsy(with(raggedS(red(fibres),(KSS((Kearns(Sayre(Syndrome)(

•  m.1555A>G:(1:4000(cong(deaf(in(UK,(1:206((NZ(random),(1:1161(USA(newborn(screened).((?4/68(postlingually(deafened(presen#ng(for(CI)(

MRI(brain(neonate(

CMV((

•  Start(treatment(at(less(than(4(weeks(of(age(•  Valgancyclovir(oral(treatment(•  Bone(marrow(suppression(•  ‘We(need(to(talk(about(CMV’(•  1000(babies(per(annum(affected(•  Research:(valgancyclovir(up(to(4(years(of(age(if(excre#ng(virus(

•  Research:immunisa#on(•  Warn(parents(and(professionals(

Infec#ve(causes(

•  Intrauterine:(((((CMV((onset(up(to(6(years),(rubella,((toxoplasmosis),((varicella),(syphilis((onset(around(10(years)(

•  Postnatal:(((Mumps),(measles,(bacterial(meningi#s((labyrinthi#s(ossificans)(

(((((((((Lyme(disease((Otogenic(labyrinthi#s(((Viral(labyrinthi#s)((HIV(

Congenital(syphilis(

•  Hutchinson’s(triad(–(inters##al(kera##s,(Hutchinsons(incisors((mulberry(molars),(deafness(

•  Treponema(pallidum(•  Saddle(nose,(rhinorrhoea,((((((corneal(clouding,(sabre(#bia,(bone(pain,(FTT,(rashes((latent/ter#ary(if(secondary(missed(at(birth)(

•  Penicillin(may(stop(worsening(

Labyrinthitis Obliterans

A

Axial T2W images of IAMs: A) Normal B) Complete obliteration of the

membranous labyrinth C) Obliteration of right

membranous labyrinth

B

Other(acquired(PCHI(•  Perinatal(events(–(progression(up(to(2(years,(6(

yrs?(Later?(Really?(

•  Autoimmune(disease(

•  Trauma,(esp(with(loss(of(consciousness:?74%(of(closed(injury(–  Fractures(of(petrous(bone(–  Disloca#on(of(ossicles/middle(ear(dysfunc#on(–  Barotrauma(–  Perilymph(fistula(

•  Meniere’s(disease(

•  Tumours((brain(and(Vlll(nerve):(NF2(

•  Ototoxicity(

ototoxicity(

•  Drugs:(cispla#n,(salicylates,(aminoglycosides,(loop(diure#cs(

•  Noise:(2kHz(notch12.5%((16S25(yr(olds)(•  Hearing(aids((german(girl)(

•  Carbon(monoxide(

Labyrinthitis Obliterans

Axial CT (A & B)

A(

B(

Autoimmune(Disease(Symptoms(

•  Sudden/(fluctua#ng/rapidly(progressive(SNHL(•  Female(>(male((?children)(•  Usually(bilateral(but(may(be(different(rates(•  Ver#go((50%),(#nnitus,(fullness(•  Inters##al(kera##s,(uvei#s,(arthri#s,(skin(lesions(•  Systemic(vasculi#s((neurological)(•  Less(than(1%(SNHL(•  Cogan’s(Syndrome,(SLE,(Sjogren’s(

•  History(may(date(back(months(

Autoimmune(Disease(Inves#ga#ons(

•  ESR/CRP/mild(anaemia(•  ?macrothrombocytosis(an(early(sign(•  An#cardiolipins/an#phospholipids,(ANA,(ANCA,(AECA,(thyroid(an#bodies,(C3(and(4.(

•  68kd(ear(specific(correlated(with(ac#ve(disease(?predic#ve(of(response(to(steroids(

Autoimmune(Disease(Treatment(

•  Steroids,methotrexate,cyclophosphamide(

•  Prompt(treatment:(evidence(inconclusive(

•  For(how(long?(•  Secondary(infec#on(•  Secondary(fibrosis/ossifica#on(•  Cochlear(implant(

(Inves#ga#on(of(the(child(((Guidelines((for(Ae1ological(Inves1ga1on(into(severe(to(profound(bilateral(permanent(

childhood(hearing(impairment,(BAAP(2015)(

Level(1((History(and(examina#on)(

•  MRI(internal(acous#c(mea#(with(sagikal(oblique(and(full(brain((CT(+/S(densitometry,(cone)(

•  Cx(26,((m.1555(A>G)((

•  Mouth(swab/urine(for(CMV(DNA(PCR(<12mths)or(CMV(IgG(+(Urine((>12(mths)(and(newborn(blood(spot(card((Guthrie)(for(CMV(DNA(

•  Urine(dips#ck(

•  Ophthalmic(examina#on(((if(>(2(years(since(seen/delayed(motor(milestones)(

•  PTA(1st(degree(rela#ons(

•  ECG((congenital(profound,(delayed(motor(milestones)(

Level(2(•  More(specific(genes(eg(pendrin,(m15555A>G,(CGH(array,(chromosomes,(referral(to(gene#cs(

•  Renal(ultrasound(

•  Metabolic(screen((of(urine,((

•  Autoimmune(tes#ng(

•  Ves#bular(tests(

•  Blood(tests(incl(serology(for(infec#on((syphilis(,(rubella,(HIV,((Toxoplasmosis))((

Inves#ga#ons(of(symptoma#c(child(

Blood(Tests(•  FBC,(ESR/CRP,(TFT,(LFT,(U(&(E,(Ca(&(phos(•  Syphilis(serology,(?Borrelia((Lyme(disease)(•  Autoan#bodies(incl.(an#cardiolipins/phospholipids,(thyroid(

an#bodies,(ANA,(ANCA,(AECA,(C3(and(4.(

Where(Indicated:(•  Renal(ultrasound(•  Chromosomes(•  Gene(panel(tes#ng(/(mitochondrial(muta#ons(•  Ophthalmologist(•  Neurologist/paediatrician/paediatric(otologist/gene#cist(

Treatment(

•  With(a(few(excep#ons(there(is(nothing(we(can(offer(that(will(prevent(deteriora#on(

•  Is(the(treatment(for(the(physician(or(the(parent?(

•  First(do(no(harm(–(steroids,(hyperbaric(O2?(

•  What(treatment(is(effec#ve?(Likle(evidence(

Can(we(prevent(progression?(

•  Treat(CMV(?valgancyclovir(

•  Steroids(?intratympanic(

•  Hyperbaric(oxygen(

•  Bed(rest(

•  Surgery((perilymph(fistula)(

•  Diet(S(low(salt(

Future?(•  Gene(therapy(

•  Neurotrophins(

•  An#oxidants(

Medical(review(

•  Formulate(care(plan(with(team(

•  Review(in(1(week(if(new(symptom(or(if(further(discussion(with(family(or(child(needed(

•  Review(in(6(weeks(if(family(confident(&(old(symptom(

•  Further(review(is(symptom(or(family(dependant(

•  Consider(cochlear(implant(if(thresholds(sufficiently(severe.(

•  Review(hearing(of(siblings(every(2(years.(

The(unexpected(is(all(around(us.(Remember(to(ask(and(look(again(

Thank(you(

For(your(aken#on(