<2006 세브란스어린이병원개원의심포지엄 > 세브란스어린이병원발달장애전문클리닉 Developmental Disorder Clinic(DDC) at Severance Children s Hospital 소아정신과 송동호
발표요지 발달장애클리닉의필요성 발달장애의체계적평가 진료시스템안내
발달장애전문클리닉이 왜필요한가?
정상발달 Early maturation 운동및반사발달 감각 (sense and perception) 발달 Cognitive development 언어및학습기능의발달 문제해결능력 (problem-solving) 발달 Psychosocial development 적응능력 (adaptive skills) 발달 정서및사회성 (emotional and social) 발달 자조기술 (self-help) 발달
발달장애의개념 정상 : 평균의 2 SD( 표준편차 ) 한도이내 이상 : 지연 (delay), 이탈 (deviation) 발달지수 (Develop Quotient; 0 세 5 세 ) - DQ = 발달연령 / 실제연령 x 100 cf) 사회지수 (Social Quotient) 지능지수 (IQ; 5 세이상 ) - IQ = 정신연령 / 실제연령 x 100 > 84 : 정상 70 ~ 84 : 의심 ( 경계선지능 ) < 70 : 발달지연 ( 정신지체 )
발달연령 평균연령 (mean age) : 50% 통과 시작연령 (initial age) : 평균연령-2SD 한계연령 (limit age) : 평균연령 +2SD DQ IQ SQ 1SD 2SD mean 2SD 추정유병율 1% 추정유병율 15%
The Spectrum of Developmental Disabilities
발달장애의유병률 유병률평균발견연령 MR 10/1,000 39m Learning disability 75/1,000 69m ADHD 100/1,000 59m Cerebral palsy 2-3/1,000 10m Autism 0.5/1,000 - (Autism spectrum disorder, ASD 5-10/1,000) Visual impairment 0.4/1,000 55m Hearing impairm t 1-2/1,000 39m
신경발달질환의증상론적분류 뇌성마비 감각발달장애 뇌병변장애 정신지체 전반적발달장애 ( 자폐성또는자폐스펙트럼장애 ) 특정발달장애 - 학습장애 (learning disability) - 발달성언어장애 - 발달성운동협응장애
신경발달질환의원인론적분류 조산및미숙아 태내및주산기질환 대사성질환 유전질환 뇌성마비 기능성신경질환 ( 소아정신과질환 ) 시청각장애 선천성근골격질환 후천성뇌손상
주요발달장애에대한국내자료 : 언어발달의지연을주소로 내원한환아들의분석 (2005) Autistic disorder Non-autistic MR Language Dev D
Subject Total number of patients who visited the DDC : 541 patients during 3-year periods Inclusion Criteria and No of subjects, 301 Autism Spectrum Disorders (ASD): 117 Non-autistic MR (MR): 141 Specific Language Impairment (SLI): 43
Ages at visit & Sex ratios Mean age±sd(mo) 56.4±31.3 68.1±33.8 41.5±21.2 22.2% 77.8% 34.5% 64.8% 20.9% 79.1% M F ASD MR SLI P> 0.05
Taken Histories of Children Birth history : no significances - Antenatal Hx: Prematurity, LBW, Twin pregnancy - Perinatal Hx: Jaundice, Infection, Neonatal seizure, Asphyxia - Postnatal Hx: Febrile convulsion, Epilepsy, CNS infection Family history Developmental history
Abnormalities in Family Hx ASD MR SLI (N=117) (N=141) (N=43) Develop delay 10.3% 4.9% 2.3% MR 2.6% 3.5% 0 Autism 3.4% 0.7% 0 Speech delay 8.5% 4.9% 11.6% Epilepsy 1.7% 4.9% 0 Genetic disease 0 0.7% 2.3% Others 0 0 0 P > 0.05
Abnormalities in Developmental Hx (Age of walking) ASD MR SLI (N=97) (N=116) (N=40) Age of walking 15.3 mo * 19.8 mo * 13.5 mo * Mean (SD) (5.3) (8.6) (2.9) Unable to walk until 18 mo 20.6% 51.7% 6.1% * P < 0.05
Abnormalities in Developmental Hx Social & Language delay 100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% Social smile Stranger anxiety Babbling One word ASD MR SLI * P > 0.05
Abnormal Physical Findings ASD MR SLI (N=117) (N=141) (N=43) Ht <3P >97P 4.3 8.5 11.3* 4.3 0 2.3 Wt <3P >97P 4.3 7.7 9.9 2.8 2.3 4.6 HC <3P >97P 2.5 4.3 16.3* 4.9 4.6 6.9 percentage * P < 0.05
BSID Findings (DQ) * 90 80 70 60 50 40 30 20 10 0 Mental IQ Motor IQ Mo-Me ASD MR SLI * P< 0.05
K-WPPSI findings (IQ) * 100 90 80 70 60 50 40 30 20 10 0 Autism MR SLI TIQ VIQ PIQ * P< 0.05
Delay in Developmental Domains 100 90 80 70 60 50 40 30 20 10 0 (%) GM* FM* LA SO* SI* ASD MR SLI * P <0.05
Identified Etiological Diagnosis ASD (N=117) MR (N=141) SLI (N=43) Dysmorphic syndromes 2 13 0 Chromosome abnormalities 10 16 0 Cortical dysplasia 0 4 0 Others 5 6 2 Total (%) 17(14.5) 39(27.6) 2(4.6)
Chromosome Abnormalities ASD (10/117) Down syndrome 1 Rett syndrome 5 Prader-Willi 4 MR (16/141) Down syndrome 3 William s syndrome 3 Velocardiofacial Synd 2 Prader-Willi 2 46 XXYY 1 2p deletion 1 4p deletion 1 46,XY,del(5)(p13) 1 46,XX,add(8)(p23) 1 45,X[41]/46,X+r(?)[10] 1
발달장애의체계적평가
발달장애아동의평가 History - Medical and Developmental History Examination - Physical, Neurological, and Mental Assessment - Developmental screening and tests - Medical and Neuropsychological tests
Developmental History Historical high risk factors 미숙아, 저체중아 산전 / 주산기이상 Asphyxia, Jaundice, IVH, RDS, Neonatal seizure 두부손상, Near-drowning, FTT 산모의질병 (HIV; DM; PKU; MR) 산모의약물중독과정신건강 유전질환 신경, 정신질환, 난청의가족력 발달지연의가족력
Physical Examination Clues associated with to certain syndromes Growth parameters HC : microcephaly / macrocephaly Short stature / Tall stature / Obesity Congenital anomalies major anomalies orthopedic contracture Skin findings Organomegaly Facial anomalies (nose, ear, lip, oral cavity, chin) Eye findings
Neurologic Examination Classic N/E Cranial nerves DTRs Muscle tone & strength Cerebellar signs & Gait Extended N/E Primitive reflexes Postural responses Neuromaturational exam./motor milestones
세브란스어린이병원 발달장애전문클리닉 진료시스템안내 - 기존발달장애평가外 -
Exams and Evaluations/Assessments 1st Visit 초진예약 예진또는기초자가설문평가 : 20-30 분소요 신경과, 재활의학및정신과합동 - 동시진료 당일가능한검사들 추가진료 해당진료과목및의뢰진료 추가검사 : 여러발달영역의기능검사및정밀의학적검사 Follow-up Visit ( 결과 )
발달및지능평가도구 : 발달심리실 Screening tools Denver DST II (0~6y) ( 신희선외, 2002) 한국형 ASQ (Ages & Stages Questionnaire) ( 허계형외 2003) 부모작성 (4-60 개월 ) 영유아언어발달선별검사 (SELSI) (5-36 개월 ) Developmental and Diagnostic tools Bayley (K-BSID-II) ( 박혜원, 2003) (1-42 개월 ) Vineland Social Maturity Scale 영유아용발달진단도구 ( 전병운, 2003) (0-71 개월 ) Leiter International Test of intelligence Kaufman Assessment Battery for Children Wechsler scale(k-wppsi, KEDI-WISC) Neuropsychological battery
운동 / 감각기능및언어의평가 운동및감각기능 : 재활병원 작업기능평가, 운동기능, 감각방어기능 언어발달평가 : 재활병원 언어기능발달평가 조음의평가 언어인지기능평가 근골격검사 : 정형외과의뢰 청각검사 : 이비인후과의뢰 congenital infection / chronic otitis small premature babies (<1500g) language delay / severe articulation defects 시각및안검사 : 안과의뢰 미숙아, 뇌성마비, 기타유전성질환
Medical Evaluations Genetic study and evaluation : 임상유전과의뢰 Cytogenetics Molecular : Fragile X, PWS/AS, Rett D, Mitochondrial D Metabolic screening Electrophysiologic studies EEG, Evoked potentials(vep, AEP, SEP) EMG, NCV Electroretinography (ERG) Brain imaging CT scan, MRI, PET, SPECT, Neurosono Not necessary for every child Biopsies(skin, muscle) others
Neuropsychiatric evaluation 행동과정서및성격평가 여러척도및심리검사 학습기능평가 기초학습기능및여러학습기능검사 자폐증평가 ADI-R, ADOS 등의자폐진단도구 신경심리기능평가 주의집중력검사등의여러전산화검사 기타사회심리적평가 부모자녀관계평가 양육스트레스평가 사회적응기능평가 요구도및삶의질평가
Visit to Follow up 1st Visit : 매주화요일오후진료 ( 주 1 회 ) 초진예약 예진또는기초자가설문평가 : 20-30 분소요 신경과, 재활의학및정신과합동 - 동시진료 당일가능한검사들 추가진료 : 1-2 주소요 해당진료과목및의뢰진료 추가검사 : 여러발달영역의기능검사및정밀의학적검사 재진 : 초진 4 주후 - 주요담당과또는세과공동으로결과를설명하고, 결과요약지를배부함 치료정기적 follow up (6 개월간격 ) : 핵심사항
Diagnostic and treatment protocol History taking Assessment examined at Ped. Neurology Ped. Psychiatry Ped. Rehab Regular Follow-ups - Refining Dx - New treatment plan Long-term Treatment - Routine - Language Cognitive & Socio-emotion Adaptive Other developmental tests Laboratory and Radiological - Optional - Neuroimaging, Electrophysiological Genetic, Metabolic test Neuropsychological(Attention) test Autism assessment OT & Sensory evaluation Hearing/ophthalmologic screening Tentative diagnosis - Phenomenological Dx - Etiological Dx Treatment plan
중점치료프로그램 기존치료시설 소아언어치료실 소아운동및작업요법실 감각통합치료실 검사및치료의신설 발달심리실 중증행동치료실 학습인지치료실 신치료기술의적용 집단상담치료실 ( 부모 - 장애아관계증진및교육 ) 유전상담 가상현실치료실 (VR; Virtual Reality)
결국발달장애전문클리닉인가? 발달영역의지연이나장애가한두영역으로나타난다하더라도대뇌의여러기능적발달장애를동반하므로관련진료영역의공동진료가필요함다. 발달장애는발달학적, 교육적, 사회심리적문제가크지만기본적으로신경발달질환이므로의학이중심이다. 다양한문제를가진뇌질환이므로평가와치료에있어전문성간에유기적연관이중요하다. 중한질환이므로전문화된진료, 연구, 교육이필요하다. - 전문인력의양성 Developmental medicine or pediatrician? 전문적인중점핵심센터로육성 : 다학제간 / 다기능간 - 조산및미숙아관리 / 임산부건강관리증진 - 장애인의료정책의기초를마련 - 장애의정도를경감시켜 adaptive disability 를목표로
발달장애전문클리닉진료진 주진료진 소아신경과김흥동교수, 이준수교수, 허윤정강사 소아정신과송동호교수 ( 팀장 ), 신의진교수, 소형석강사 소아재활의학과박은숙교수, 나동욱강사 발달장애행동수정치료실정경미교수 ( 연대심리학 ) 협조진료진 소아발달심리실정경미교수, 엄소영강사 재활병원치료실 ( 언어치료 / 물리치료 / 작업치료 / 감각통합치료 ) 임상유전과이진성교수 소아정형외과김현우교수 소아안과 / 이비인후과 영상진단의학과 핵의학과