類 不 立 理 都 不論 (BFHI) 都 勵 不 利 了 行 糖 行 療 了 列 勵 女 理 理 女 女 勵 女 勵 女 不 切 女 療 例 理 理 了 不 量 了 例 累 冷 刺 了 1
陸 都 (apparent life threatening event) 年 了 立 錄 料 了 不 都 零 理 料 立 錄 數 37 狀 良 Apgar 數 8 (collapse)( 神 不 ) 療 料 12-24 率 100,000 2.6, 3.2 5 例 率 1.1, 0 0.8/100 000 Poets 2009 年 年 17 9 例 兩 離 1 180 ( 數 15 ) 兩 離 1 60 ( 數 6 ) 9 例 療 離 3 180 ( 數 15 ) 7 例 療 療 10 例 6 例 神 Arch Dis Child Fetal Neonatal Ed Becher JC 不列 2008 年 11 1 2009 年 11 31 數 37 Apgar 數 8 12 (collapse) 療 45 率 0.05/1000 12 例 15 例 異 / 異 塞 便 30 例 (0.035/1000 ) 不 24 例 塞 ( ) 30 例 22 例 (73%) 10 例 (33%) 不 5 例 5 例 神 論 2
不 見 療 不 度 2011 年 不列 了 異 異 () 55 例 ( 料來 參 6). 錄 見 力 不論 裡都 數 益 療 切 狀 兩 療 不 了 率 都 不論 度 理 力 不 立 省 度 不論 都 練 流 不 力 狀 狀 3
勵 (,) 理 行 理 參見 療 更 理 都 力 ( ) 更 療 不 療 良 1. Moore ER, Anderson GC, Bergman N. Early skin-to-skin contact for mothers and their healthy newborn infants. Cochrane Database Syst Rev 2007;3:CD003519. 2. Poets A, Steinfeldt R, Poets CF. Sudden deaths and severe apparent life-threatening events in term infants within 24 hours of birth. Pediatrics 2011;127:e869 73 3. Dageville C, Pignol J, De Smet S. Very early neonatal apparent life-threatening events and sudden unexpected deaths: incidence and risk factors. Acta Paediatr 2008;97:866 9. 4. Becher JC, Bhushan SS, Lyon AJ. Unexpected collapse in apparently healthy newborns - a prospective national study of a missing cohort of neonatal deaths and near-death events. Arch Dis Child Fetal Neonatal Ed. 2012 Jan;97(1):F30-4. 5. Fleming PJ. Unexpected collapse of apparently healthy newborn infants: the benefits and potential risks of skin-to-skin contact. Arch Dis Child Fetal Neonatal Ed 2012;97:F2 F3 6. WellChild. Guidelines for the Investigation of newborn infants who suffer a sudden and unexpected postnatal collapse in the first week of life:recommendations from a professional group on sudden unexpected postnatal collapse. London, 2011. http://www.bapm.org/media/docume nts/supc%20booklet.pdf 7. 玲.., 2005(2);3 http://www.bhp.doh.gov.tw/breastfe eding/pdf/n2-3-13.pdf 4
見 ( 料來 參 6). 理, : - (swabs)- - Echovirus, Coxsackie, -,, RSV,Parvovirus,Herpes CSF-,,, 糖 尿 -, - 咽 -, 異 - Transposition of the great arteries - Truncus arteriosus - Univentricular heart - Pulmonary stenosis/atresia - Tricuspid atresia 塞 : - Coarctation/interruption of the aorta - Hypoplastic left heart - Aortic stenosis - Long QT syndrome - Atrial fibrillation Total anomalous pulmonary venous drainage 塞 Barth syndrome Congenital coronary artery aneurysm Anomalous coronary artery 類 opiate 泌 Hypoglycaemia Hyperinsulinism Congenital adrenal hypoplasia ECG X-ray - / acgh, DNA, Skeletal survey cardiolipin X 泌 - 數 Kleihauer 理 - glucose, lactate, ammonia, betahydroxybutyrate, amino acids, insulin, free fatty acids, acyl carnitine profile, urate, uric acid Cortisol ( 不 3 ), 5
Hypoglycaemia Hypocalcaemia Hypomagnesaemia Fatty acid oxidation defects- including MCAD deficiency, VLCAD deficiency, LCHAD deficiency, carnitine acylcarnitine translocase deficiency, carnitine palmitoyltransferase 2 deficiency, trifunctional protein deficiency Urea cycle defects Organic acidaemias Lysosomal storage disorders- I-cell disease Peroxisomal disorders- Zellweger syndrome Glycogen storage disorder types 2 or 4 Heart-specific phosphorylase kinase deficiency Mitochondrial disorders- respiratory chain, Leigh s disease Congenital defects of glycosylation Congenital lactic acidoses Glycine encephalopathy Biotinidase deficiency Glucose transporter defect- GLUT1 Molybdenum cofactor deficiency Sulphite oxidase deficiency 神 Drug withdrawal Perinatal infarction Intracranial bleed Antenatal injury Hypoplasia of brainstem nuclei Hyperekplexia: apnoea/tonic Congenital hypoventilation syndrome Rett syndrome variants Joubert syndrome 神 / Congenital myasthenia syndromes Nemaline myopathy X-linked myotubular (centronuclear) myopathy Central core disease electrolytes - glucose, gas, lactate, ammonia, betahydroxybutyrate, amino acids, insulin, free fatty acids, acyl carnitine profile, urate, uric acid, cortisol ( 不 3 ), VLCFAs, calcium, magnesium,, DNA, CSF - lactate, amino acids glycine, 尿 - organic acids orotic acid, amino acids urinary sulphocysteine, Skeletal survey 切 切 - fibroblast culture Ophthalmoscopy/ Retcam MRI ECG EEG/aEEG/cerebral function monitor 尿 Coagulation screen MRI, 切 : - PHOX2B sequencing (congenital hypoventilation syndrome) - MECP2 sequencing and copy estimation (Rett syndrome variants) MRI Skeletal survey congenital myasthenic syndromes DNA / acgh 切 MTM1 (XLMM), RYR1 (central core disease), NEM1-5 (nemaline myopathy), CHRNE & 6
CHRNB1 (subunits of the acetylcholine receptor) Ophthalmoscopy/ Retcam (EMG, nerve biopsy) 2006 年 錄 參 6 更 料 Protocol of Neonatal Sudden Unexpected Collapse I. Basic Data 歷 Name Birth date : G_P_A_, GA wk day, BBW gm, Apgar Score 1/5 min / Feeding BF Formula mixed not yet II. Maternal History: Age y/o smoke ( before during after pregnancy) infection GDM DM Pre-eclampisa hypertension other III. Labor History: ( 離 ) NSD use of vacuum use of forceps C/S Presentation vertex breech face other skin to skin contact after birth yes no IV. Family History of Near- Miss yes No yes,( 年 狀 ) Other Family History possibly contributed to Near-Miss ( ) V. Details at Event age of last vaccine day hour type of vaccine HBV BCG others 年 day hour AM PM hr min : AM PM hr min : : : 7
狀 : 狀 : apnea cyanosis /min : or 糖 hr min 理 : O2 ambu intubation chest compression drug VI. 1., 年 day 2. 年 y m 3. 年 y m VII. (, NA) 1. CBC at event WBC /cumm DC neutrophil % lymphocyte % eosinophil % Hb gm/dl,platelet 2. Blood gas: arterial venous heel puncture PH PO2 PCO2 HCO3 BE 3. Blood sugar mg/dl 4. Electrolyte: Na K Cl free Ca Ca P Mg other Lactate NH3 5. CRP () 6. Culture () 7. CXR ( ) 8. EKG ( ) 9. Echocardiogram () 10. metabolic screening: Gene for central hypoventilation (please contact with,02-3123456-2408,2409,2411) blood a.a. urine organic acid tandem mass others 11.autopsy 12.other examinations( CT, MRI, esophageogram) 8