Achalasia is a rare primary oesophageal motility disorder that presents as a functional obstruction at the oesophago-gastric junction. The prevalence of achalasia in Down syndrome is much higher, which implies a unique association between these two uncommon conditions. Although the exact aetiology of achalasia is unknown, studies have proposed that its pathogenesis is related to autoimmune, infectious or genetic factors, leading to the intrinsic loss of inhibitory myenteric neurons in both the oesophagus and lower oesophageal sphincter. We herein report the case of a 16-month-old girl with Down syndrome and achalasia who was initially treated for gastro-oesophageal reflux disease. The diagnosis of achalasia was made only when her condition deteriorated, with subsequent failure to thrive, and upon further investigations, including barium swallow study and upper endoscopy. We also review the various mechanisms postulated in the development of achalasia in Down syndrome, as well as the various treatment modalities available for this rare disorder.
Airway Obstruction ; Body Weight ; Down Syndrome ; complications ; diagnosis ; Esophageal Achalasia ; complications ; diagnosis ; Female ; Fluoroscopy ; Gastroesophageal Reflux ; complications ; diagnosis ; Humans ; Infant ; Karyotyping

Autistic Disorder ; complications ; psychology ; Child ; Child Development ; Communication ; Down Syndrome ; complications ; physiopathology ; psychology ; Follow-Up Studies ; Humans ; Interpersonal Relations ; Male ; Play and Playthings ; Singapore ; Social Behavior ; Stress, Psychological ; psychology

Extracorporeal Membrane Oxygenation ; Humans ; Respiratory Insufficiency ; Treatment Outcome

INTRODUCTIONThis study aims to determine the incidence, trends of systemic candidiasis and meningitis in extremely low birthweight (ELBW) neonates (<1000 gms) despite the routine use of topical miconazole prophylaxis and to compare the risk factors, adverse outcomes and comorbidities with controls.

MATERIALS AND METHODSRetrospective cohort study of ELBW neonates with systemic candidiasis and meningitis over an 11-year period (1997 to 2007). Matched case control analyses were performed to determine the risk factors and comorbidities which were severe intraventricular haemorrhage (IVH), severe retinopathy of prematurity (ROP), patent ductus arteriosus (PDA) requiring treatment, necrotising enterocolitis (NEC), chronic lung disease (CLD) and cholestatic jaundice. Mortality and end organ involvement secondary to systemic candidiasis were identified as adverse outcomes.

RESULTSOf the 757 ELBW neonates, 51 (6.7%) had evidence of systemic candidiasis with a significant 3-fold increase in trend noted in 2007 as compared against 1997 (12.1% vs 3.8%) (RR 1.2, 95% CI, 1.06 to 1.36, P <0.001). This corresponds to a significant increasing trend of preceding or co-existent bacterial blood stream infections (BSI) in neonates with systemic candidiasis (0% in 1997 vs 7.1% in 2007, RR 1.40, 95% CI, 1.04 to 1.25, P = 0.005). On logistic regression analysis, decreasing gestational age was an independent risk factor for systemic candidiasis (OR 2.0, 95% CI, 1.52 to 2.63, P <0.001). Candida meningitis was detected in 4/38 (10.5%) and end organ involvement in 17 (33%). The organisms isolated were Candida parapsilosis 31 (61%), Candida albicans 17 (33%) and Candida glabrata 3 (5.8%). Significantly higher mortality was seen in cases when compared to controls 10/51 (19.6%) vs 76/706 (10.7%) (OR 2.02, 95% CI, 1.02 to 4.40, P <0.001).

CONCLUSIONIncreasing trend in the incidence of systemic candidiasis despite routine use of topical miconazole prophylaxis is of concern and future studies comparing the use of systemic fl uconazole versus oral nystatin may need to be considered.

Administration, Topical ; Antifungal Agents ; administration & dosage ; Candidiasis ; epidemiology ; prevention & control ; Cohort Studies ; Humans ; Incidence ; Infant, Extremely Low Birth Weight ; Infant, Newborn ; Miconazole ; administration & dosage ; Retrospective Studies ; Risk Factors ; Time Factors ; Treatment Failure

INTRODUCTIONParainfluenza type 3 virus (PIV-3) is an important nosocomial pathogen which causes pneumonia and bronchiolitis in infants. We report an outbreak of PIV-3 respiratory infection which occurred in the neonatal unit of KK Hospital in June 2005. This is the second PIV-3 outbreak in our unit after the fi rst in December 1994.

MATERIALS AND METHODSThe clinical characteristics and outcome of 7 infants tested positive for PIV-3 on nasopharyngeal aspirate in June 2005 were reviewed retrospectively.

RESULTSSeven cases were infected with PIV-3 during this outbreak. The median birthweight of affected infants was 970 g (range, 740 to 2585 g), gestational age was 27 weeks and 4 days (range, 24 to 35 weeks), and postnatal age was 84 days (range, 28 to 250 days). Apnoeas and bradycardias were significant symptoms in 3 infants, 5 infants had progressive respiratory distress while the remaining 2 infants had flu-like illness. Five infants required ventilatory support and there were no deaths. The index case was an infant with chronic lung disease who was on oxygen supplementation and subsequently required ventilatory support with nasal CPAP. Despite implementation of control measures to prevent the spread of infection through early identification with strict cohorting of infected cases, contact tracing/screening, and reinforcement of hand hygiene precautions, the outbreak lasted for 24 days.

CONCLUSIONPIV-3 respiratory infection in preterm infants can present with non-specific symptoms, leading to significant morbidity especially in those with underlying pulmonary pathology. Early recognition of symptoms and diagnosis by physicians, and prompt institution of control measures are necessary to prevent the spread of infection.

Continuous Positive Airway Pressure ; Cross Infection ; epidemiology ; therapy ; Disease Outbreaks ; statistics & numerical data ; Female ; Health Status Indicators ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Influenza, Human ; epidemiology ; therapy ; Lung Diseases ; epidemiology ; therapy ; Parainfluenza Virus 3, Human ; Respiration, Artificial ; Respirovirus Infections ; epidemiology ; therapy ; Retrospective Studies ; Risk Factors ; Singapore ; epidemiology

INTRODUCTIONLate preterm (LP) neonates (34 to 36 weeks gestation) are often managed like term neonates though current literature has identified them to have greater complications. The primary objective of our study was to evaluate and compare morbidity and resource utilisation in LPs especially in view of paucity of Asian studies in this regard.

MATERIALS AND METHODSA retrospective audit was carried out on 12,459 neonates born in KK Women's and Children's Hospital (KKWCH). The chief outcome measures were hypoglycaemia, hypothermia, respiratory morbidity, feeding problems and neonatal jaundice. Resource utilisation included neonatal intensive care unit (NICU) admission, mechanical ventilation, parenteral nutrition and length of hospitalisation.

RESULTSOf 12,459 deliveries, 1221 (10%) were LP deliveries with a significantly increasing trend of 8.6% to 10% from 2002 to 2008 (P = 0.001). Neonatal morbidity in the form of hypoglycaemia (34 weeks vs 35 to 36 weeks vs term: 26% vs 16% vs 1%); hypothermia (5% vs 1.7% vs 0.2%); feeding difficulties (30% vs 9% vs 1.4%); respiratory distress syndrome (RDS) (4% vs 1% vs 0.1%); transient tachypnea of the newborn (TTNB) (23% vs 8% vs 3%) and neonatal jaundice (NNJ) needing phototherapy (63% vs 24% vs 8%), were significantly different between the 3 groups, with highest incidence in 34-week-old infants. Resource utilisation including intermittent positive pressure ventilation (IPPV) (15% vs 3.5% vs 1%), total parenteral nutrition/intravenous (TPN/IV) (53% vs 17% vs 3%) and length of stay (14 ± 22 days vs 4 ± 4.7 days vs 2.6 ± 3.9 days) was also significantly higher (P <0.001) in LPs.

CONCLUSIONLP neonates had significantly higher morbidity and resource utilisation compared to term infants. Among the LP group, 34-week-old infants had greater complications compared to infants born at 35 to 36 weeks.

Clinical Audit ; Feeding Behavior ; Female ; Humans ; Hypoglycemia ; epidemiology ; Hypothermia ; epidemiology ; Infant, Newborn ; Infant, Premature ; Intensive Care Units, Neonatal ; utilization ; Intermittent Positive-Pressure Ventilation ; utilization ; Jaundice, Neonatal ; epidemiology ; therapy ; Length of Stay ; statistics & numerical data ; Male ; Parenteral Nutrition ; utilization ; Parenteral Nutrition, Total ; utilization ; Phototherapy ; Premature Birth ; epidemiology ; Respiration, Artificial ; utilization ; Respiratory Distress Syndrome, Newborn ; epidemiology ; Retrospective Studies ; Singapore ; epidemiology ; Transient Tachypnea of the Newborn ; epidemiology

INTRODUCTIONInfants with Down syndrome (DS) are at higher risk of hearing loss (HL). Normal hearing at one year of age plays an important part in language development. An audit was conducted to determine the impact of the newborn hearing screening program on the incidence, type and timing of diagnosis of HL during first year of life.

MATERIALS AND METHODSInfants with DS were scheduled for Universal Newborn Hearing Screening (UNHS) within 4 weeks of life. If they passed, they had a high-risk screen at 3 to 6 months. They were referred to the otolaryngology department if they did not pass the UNHS or the high-risk screen. Information was obtained from the computerised data tracking system and case notes. Infants born from April 2002 to January 2005 and referred to the DS clinic of our hospital were analysed.

RESULTSThirty-seven (82.2%) of 45 infants underwent UNHS, of which 12 (32.4%) infants did not pass. Of remaining 33 infants, 27 had high-risk screen done of which 14 (51.8%) did not pass. Twenty-eight infants were referred to the ear, nose, throat (ENT) clinic: 12 from UNHS, 14 from high-risk screens and 2 from the DS clinic. Eleven (39.2%) defaulted follow-up. Fourteen (82.3%) of 17 infants who attended the ENT Clinic had HL. Twelve (85.7%) were conductive, and 2 (14.2%) mixed. Nine (64.2%) had mild-moderate HL and 3 (21%) had severe HL. The mean age of diagnosis was 6.6 ± 3.3 months. All were treated medically, plus surgically if indicated. By 12 months of age, the hearing had normalised in 4 (28.6%) infants and remained the same in 3 (21.4%). Five (35.7%) defaulted follow-up. Thirty-five out of 45 (77.8%) underwent complete hearing screen in the first year of life (UNHS & High-risk screen). Six out of 45 (13.3%) had incomplete screening. Fourteen out of 41 (34.1%) had HL of varying degrees. Four out of 45 (8.8%) did not have any audiological assessment in first year of life.

CONCLUSIONThe incidence of HL in the first year of life was high (34.1%). Eighty-five percent were conductive with 64.2% in mild-moderate range. One third of infants hearing normalized after treatment, one third remained unaltered and one third of infants did not attend follow-up. An aggressive approach involving early screening after birth and continued surveillance and early referral to appropriate agencies are essential for establishing timely diagnosis and treatment. Measures to reduce the high default rate during long-term follow-up are needed. Parent education and integrated multidisciplinary follow-up clinic may be useful.

Down Syndrome ; complications ; Early Diagnosis ; Female ; Hearing Loss ; diagnosis ; epidemiology ; etiology ; physiopathology ; Hearing Tests ; Humans ; Infant ; Male ; Mass Screening ; Medical Audit ; Population Surveillance ; methods ; Severity of Illness Index ; Singapore ; epidemiology ; Trisomy ; genetics

INTRODUCTIONThis study assesses the trends and predictors of mortality and morbidity in infants of gestational age (GA) <27 weeks from 1990 to 2007.

MATERIALS AND METHODSThis is a retrospective cross-sectional cohort study of infant deliveries between 1990 and 2007 in the largest perinatal centre in Singapore. This is a study of infants born at <27 weeks in 2 Epochs (Epoch 1 (E1):1990 to 1998, Epoch 2 (E2):1999 to 2007) using logistic regression models to identify factors associated with mortality and composite morbidity. The main outcomes that were measured were the trends and predictors of mortality and morbidity.

RESULTSFour hundred and eight out of 615 (66.3%) live born infants at 22 to 26 weeks survived to discharge. Survival improved with increasing GA from 22% (13/59) at 23 weeks to 87% (192/221) at 26 weeks (P <0.01). Survival rates were not different between E1 and E2, (61.5% vs 68.8%). In logistic regression analysis, higher survival was independently associated with increasing GA and birthweight, while airleaks, severe intraventricular haemorrhage (IVH) and necrotizing enterocolitis (NEC) contributed to increased mortality. Rates of major neonatal morbidities were bronchopulmonary dysplasia (BPD) (45%), sepsis (35%), severe retinopathy of prematurity (ROP) (31%), severe IVH/ periventricular leucomalacie (PVL) (19%) and NEC (10%). Although composite morbidity comprising any of the above was not significantly different between the 2 Epochs (75% vs 73%) a decreasing trend was seen with increasing GA (P <0.001). Composite morbidity/ mortality was significantly lower at 26 weeks (58%) compared to earlier gestations (P <0.001, OR 0.37, 95% CI, 0.28 to 0.48) and independently associated with decreasing GA and birth weight, male sex, hypotension, presence of patent ductus arteriosus (PDA) and airleaks.

CONCLUSIONIncreasing survival and decreasing composite morbidity was seen with each increasing week in gestation with marked improvement seen at 26 weeks. Current data enables perinatal care decisions and parental counselling.

Cross-Sectional Studies ; Female ; Gestational Age ; Humans ; Infant Mortality ; trends ; Infant, Extremely Premature ; growth & development ; Infant, Newborn ; Infant, Premature, Diseases ; classification ; diagnosis ; epidemiology ; Logistic Models ; Male ; Neonatal Screening ; methods ; Outcome Assessment (Health Care) ; statistics & numerical data ; Prognosis ; Risk Factors ; Singapore ; epidemiology ; Survival Rate ; trends

INTRODUCTIONWe aimed to study the profile of nonimmune hydrops fetalis (NIHF) in the local population and identify its outcomes and causes.

METHODSWe carried out a retrospective review of the medical records in KK Women's and Children's hospital, a single tertiary referral centre, for pregnancies with an antenatal diagnosis of NIHF in the six-year period from 1 January 2005 to 31 December 2010.

RESULTSA total of 29 cases of NIHF were identified; 19 (66%) cases underwent karyotype evaluation, 17 (59%) underwent intrauterine infection screening, and all underwent antenatal thalassaemia screening. The median gestational age at diagnosis was 27 (range 12-37) weeks, median gestational age at birth was 33 (range 27-37) weeks, and median birth weight of live births was 2,480 (range 1,230-3,900) g. The aetiologies for NIHF were identified in 20 (69%) cases, which included cardiac anomalies (n = 5), haematological problems (n = 4), congenital tumours (n = 4), genetic/metabolic disorders (n = 4) and cystic hygromas (n = 3). The cause of NIHF was not identified in the remaining 9 (31%) cases. There were 19 live births - 8 (42%) survived and 11 (58%) died in the neonatal period - and one stillbirth. Nine women opted for medical termination of pregnancy following the diagnosis of NIHF.

CONCLUSIONIt is important to thoroughly investigate all cases of NIHF and identify its causes in order to provide appropriate antenatal and postnatal counselling. In our series, almost one-third of NIHF cases had no identified aetiology. The neonatal mortality rate was approximately 58%.

Adult ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Gestational Age ; Humans ; Hydrops Fetalis ; diagnosis ; epidemiology ; Incidence ; Infant, Newborn ; Male ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; methods ; Retrospective Studies ; Singapore ; epidemiology ; Young Adult