Feasibility and acceptability of targeted salivary cytomegalovirus screening through universal newborn hearing screening.

AIM: This study aimed to determine the feasibility and parental acceptability of screening for congenital cytomegalovirus (cCMV) through saliva polymerase chain reaction in infants who did not pass their newborn hearing screening. Additionally, the utility (i.e. time to diagnosis and treatment) of this enhanced clinical pathway was evaluated. METHODS: The study was conducted through the Victorian Infant Hearing Screening Programme (VIHSP) across four maternity hospitals in Melbourne, Australia, during June 2019-March 2020. Parents were approached by VIHSP staff about obtaining a test for cytomegalovirus (CMV) at the time of their baby's second positive ('refer') result on the VIHSP screen. Participating parents collected a saliva swab for CMV polymerase chain reaction from their infants. Feasibility was determined by the proportion of 'referred' infants whose parents completed the salivary CMV screening test ≤21 days of life. Acceptability was measured through parent survey. RESULTS: Of 126 eligible families, 96 (76.0%) had salivary screening swabs taken ≤21 days of life. Most families (>92.0%) indicated that screening was acceptable, straightforward and thought testing their baby for cCMV was a good idea. One infant screened positive on day 30, was diagnosed with cCMV via confirmatory testing by day 31 and commenced valganciclovir on day 32. CONCLUSIONS: Obtaining a saliva sample to screen for cCMV in infants who do not pass their newborn hearing screen is feasible and appears acceptable to parents. This targeted cCMV screening method could be an option where mothers are rapidly discharged from hospital, especially in the context of the COVID-19 pandemic.

Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study.

BACKGROUND: The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine recently recommended offering genetic counseling and diagnostic testing for enlarged nuchal translucency at ≥3.0 mm, regardless of previous negative screening with noninvasive prenatal testing. OBJECTIVE: This study aimed to perform a population-based, individual record linkage study to determine the optimal definition of an enlarged nuchal translucency for the detection of atypical chromosome abnormalities. STUDY DESIGN: This was a retrospective study of women resident in Victoria, Australia, undergoing combined first-trimester screening during the 24-month period from January 2015 to December 2016. Linkages between statewide results for combined first-trimester screening, prenatal diagnostic procedures, and postnatal cytogenetic results from products of conception and infants up to 12 months of age were used to ascertain the frequency and type of chromosome abnormality by gestation and nuchal translucency measurement. An atypical chromosome abnormality was defined as any major chromosome abnormality other than whole chromosome aneuploidy involving chromosomes 21, 18, 13, X, and Y. RESULTS: Of the 81,244 singleton pregnancies undergoing combined first-trimester screening, 491 (0.60%) had a nuchal translucency of ≥3.5 mm, 534 (0.66%) had a nuchal translucency of 3.0 to 3.4 mm, and 80,219 (98.74%) had a nuchal translucency of < 3.0 mm. When grouped by nuchal translucency multiples of the median (MoM), 192 (0.24%) had a nuchal translucency of ≥3.0 MoM, 513 (0.63%) had a nuchal translucency of 1.9 to 2.9 MoM, and 80,539 (99.13%) had a nuchal translucency of <1.9 MoM. A total of 1779 pregnancies underwent prenatal or postnatal diagnostic testing, of which 89.60% were performed by whole-genome single-nucleotide polymorphism chromosomal microarray. The frequency of total major chromosome abnormalities was significantly higher in the group with a nuchal translucency of ≥3.5 mm (147 of 491, 29.94%) than the group with a nuchal translucency of 3.0 to 3.4 mm (21 of 534, 3.93%) or a nuchal translucency of <3.0 mm (71 of 80,219, 0.09%) (P<.001). There were 93 atypical chromosome abnormalities in the total screened cohort. The frequency of an atypical chromosome abnormality was 4.07% (95% confidence interval, 2.51-6.22), 0.37% (95% confidence interval, 0.05-1.35), and 0.09% (95% confidence interval, 0.07-0.11) in the groups with a nuchal translucency of ≥3.5 mm, 3.0 to 3.4 mm, and <3.0 mm, respectively. The frequency of atypical chromosome abnormalities was 4.69% (95% confidence interval, 2.17-8.71), 2.53% (95% confidence interval, 1.36-4.29), and 0.09% (95% confidence interval, 0.07-0.11) in the groups with a nuchal translucency of ≥3.0 MoM, 1.9 to 2.9 MoM, and <1.9 MoM, respectively. When defining thresholds for offering diagnosis with chromosomal microarray at 11 to 13 weeks, both a nuchal translucency threshold of 1.9 MoM and a fixed threshold of 3.0 mm captured 22 of 93 fetuses (23.7%) with an atypical chromosome abnormality. Of these, 50.0% had a coexisting fetal abnormality on ultrasound. However, the gestation-specific threshold of 1.9 MoM had a better specificity than 3.0 mm. The positive predictive value of an enlarged nuchal translucency for any atypical chromosome abnormality was 1 in 47 for nuchal translucency of >3.0 mm and 1 in 32 for nuchal translucency of >1.9 MoM. Our nuchal translucency threshold of 1.9 MoM captured 0.87% of fetuses, thus approximating the 99th centile. CONCLUSION: A gestational age-adjusted nuchal translucency threshold of 1.9 MoM or 99th centile is superior to the fixed cutoff of 3.0 mm for the identification of atypical chromosome abnormalities. The risk of an atypical chromosome abnormality in a fetus with an enlarged nuchal translucency is more than tripled in the presence of an additional ultrasound abnormality.

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.

STUDY QUESTION: What is the frequency of major chromosome abnormalities in a population-based diagnostic data set of genomic tests performed on miscarriage, fetal and infant samples in a state with >73 000 annual births? SUMMARY ANSWER: The overall frequency of major chromosome abnormalities in the entire cohort was 28.2% (2493/8826), with a significant decrease in the detection of major chromosome abnormalities with later developmental stage, from 50.9% to 21.3% to 15.6% of tests in the miscarriage, prenatal and postnatal cohorts, respectively. WHAT IS KNOWN ALREADY: Over the past decade, technological advances have revolutionized genomic testing at every stage of reproduction. Chromosomal microarrays (CMAs) are now the gold standard of chromosome assessment in prenatal diagnosis and pediatrics. STUDY DESIGN, SIZE, DURATION: A population-based cohort study including all chromosome analysis was performed in the Australian state of Victoria during a 24-month period from January 2015 to December 2016. All samples obtained via invasive prenatal diagnosis and postnatal samples from pregnancy tissue and infants ≤12 months of age were included. PARTICIPANTS/MATERIALS, SETTING, METHODS: A research collaboration of screening and diagnostic units in the Australian state of Victoria was formed (the Perinatal Record Linkage collaboration), capturing all instances of prenatal and postnatal chromosome testing performed in the state. Victoria has over 73 000 births per annum and a median maternal age of 31.5 years. We analyzed our population-based diagnostic data set for (i) chromosome assessment of miscarriage, prenatal diagnosis and postnatal samples; (ii) testing indications and diagnostic yields for each of these cohorts; (iii) and the combined prenatal/infant prevalence of 22q11.2 deletion syndrome (DS) as a proportion of all births ≥20 weeks gestation. MAIN RESULTS AND THE ROLE OF CHANCE: During the 24-month study period, a total of 8826 chromosomal analyses were performed on prenatal and postnatal specimens in Victoria. The vast majority (91.2%) of all chromosome analyses were performed with CMA.The overall frequency of major chromosome abnormalities in the entire cohort was 28.2% (2493/8826). There was a significant decreasing trend in the percentage of chromosome abnormalities with later developmental stage from 50.9% to 21.3% to 15.6% in the miscarriage, prenatal and postnatal cohorts, respectively (χ2 trend = 790.0, P < 0.0001). The total frequency of abnormalities in the live infant subgroup was 13.4% (244/1816). The frequencies of pathogenic copy number variants (CNVs) detected via CMA for the miscarriage, prenatal and postnatal cohorts were 1.9% (50/2573), 2.2% (82/3661) and 4.9% (127/2592), respectively. There was a significant increasing trend in the frequency of pathogenic CNVs with later developmental stage (χ2 trend = 39.72, P < 0.0001). For the subgroup of live infants, the pathogenic CNV frequency on CMA analysis was 6.0% (109/1816). There were 38 diagnoses of 22q11.2 DS, including 1 miscarriage, 15 prenatal and 22 postnatal cases. After excluding the miscarriage case and accounting for duplicate testing, the estimated prevalence of 22q11 DS was 1 in 4558 Victorian births. LIMITATIONS, REASONS FOR CAUTION: Clinical information was missing on 11.6% of postnatal samples, and gestational age was rarely provided on the miscarriage specimens. We were unable to obtain rates of termination of pregnancy and stillbirth in our cohort due to incomplete data provided by clinical referrers. We therefore cannot make conclusions on pregnancy or infant outcome following diagnostic testing. Childhood and adult diagnoses of 22q11 DS were not collected. WIDER IMPLICATIONS OF THE FINDINGS: Our study marks a complete transition in genomic testing from the G-banded karyotype era, with CMA now established as the first line investigation for pregnancy losses, fetal diagnosis and newborn/infant assessment in a high-income setting. Integration of prenatal and postnatal diagnostic data sets provides important opportunities for estimating the prevalence of clinically important congenital syndromes, such as 22q11 DS. STUDY FUNDING/COMPETING INTEREST(S): L.H. is funded by a National Health and Medical Research Council Early Career Fellowship (1105603); A.L. was funded by a Mercy Perinatal Research Fellowship; J.H. was funded by a National Health and Medical Research Council Senior Research Fellowship (10121252). The funding bodies had no role in the conduct of the research or the manuscript. Discretionary funding from the Murdoch Children's Research Institute has supported the prenatal diagnosis data collection and reporting over the years.Dr Ricardo Palma-Dias reports a commercial relationship with Roche Diagnostics, personal fees from Philips Ultrasound, outside the submitted work. Debbie Nisbet reports a commercial relationship with Roche Diagnostics, outside the submitted work. TRIAL REGISTRATION NUMBER: NA.

Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016.

OBJECTIVES: To explore the association between timing of diagnosis of common autosomal trisomies, maternal age, and socio-economic status (SES). DESIGN: Retrospective study of cytogenetic diagnoses of trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13) in Victoria, Australia, in 2015 to 2016, stratified by timing (prenatal less than 17 weeks gestation, prenatal including or greater than or 17 weeks gestation, and postnatal before 12 months of age), maternal age, and SES region. Utilisation of prenatal testing following a live-born T21 infant was ascertained via record linkage. RESULTS: Among 160 230 total births were 571 diagnoses of T21 and 246 of T18/T13. The overall and live birth prevalences of T21 were 3.56 and 0.47 per 1000 births, respectively. Compared with women from disadvantaged SES regions, women from high SES regions were more likely to have a prenatal diagnosis of a trisomy before 17 weeks than after (P < .01) and less likely to have a live-born T21 infant than a prenatal diagnosis (P < .01). There was a significant trend to higher live birth rates of T21 with lower SES (P = .004). The majority (68.5%) of women who gave birth to a live infant with T21 did not utilise prenatal testing. CONCLUSION: There is a significant relationship between lower SES, later prenatal diagnosis of trisomy, and higher live birth rate of T21 in Victoria.

Transgender adolescents and legal reform: How improved access to healthcare was achieved through medical, legal and community collaboration.

Transgender children and adolescents face hardships in all domains of their lives, with many experiencing family rejection, social exclusion, discrimination, bullying and assaults. The mental health implications of these experiences include high rates of depression, anxiety, self-harm and attempted suicide. Gender-affirming social support and medical treatment has been shown to ameliorate the poor mental health outcomes of transgender youth, with those who are supported in their social and medical transition reporting rates of depression and self-worth equivalent to general population levels. Advocacy efforts that improve access to support and medical treatment are therefore likely to produce significant positive health and well-being outcomes for this vulnerable population. The transgender community in Australia identified the legal restrictions placed on children and adolescents accessing medical treatment as a significant barrier to positive psychological well-being. Australian law, unique internationally, required the parents of transgender adolescents to apply for court authorisation prior to the commencement of their child's gender-affirming medical treatment. Concerned by the harm created by this process, a coalition of experts, including transgender children, adolescents and their parents, as well as academic and clinical experts in the fields of law and medicine, was created to advocate for reform. Over a period of approximately 4 years, a collaborative process was undertaken, which ultimately led to law reform and improved access to medical treatment for the transgender community.

Exploring Parent Support Needs during the Newborn Hearing Diagnosis Pathway.

Universal newborn hearing screening (UNHS) facilitates early detection of permanent congenital hearing loss in newborns. In recognition of specific needs among parents, support services have been established within some UNHS programs, including the Victorian Infant Hearing Screening Program (VIHSP). Despite this, there is limited research about how to best support parents in the context of well-established UNHS programs. This project aims to retrospectively explore parental support needs between the newborn hearing screen and enrolment into early intervention services. We used semi-structured interviews with parents three- to- six-months post confirmation of their newborn's diagnosis of bilateral moderate-profound sensorineural hearing loss. Data were analysed using inductive content analysis. Thirteen parents of ten children were interviewed. Parents described high satisfaction with the support they received. Some parents felt unprepared for a diagnosis of hearing loss, having been reassured that transient causes such as middle ear fluid caused the hearing screen result. Parents reported mixed responses regarding the value of parent-mentor support along the pathway and some parents described needing additional psychological input to adjust to their child's diagnosis. These findings provide insights into how a well-established UNHS program, VIHSP, supports parents along the hearing diagnosis pathway and how support can be further enriched.

Measurement tools for gender identity, gender expression, and gender dysphoria in transgender and gender-diverse children and adolescents: a systematic review.

Increasing numbers of children and adolescents are being referred to gender services for gender-related concerns. Various instruments are used with these patients in clinical care, but their clinical validity, strengths, and limitations have not been systematically reviewed. In this systematic review, we searched MEDLINE, PubMed, and PsycINFO databases for available tools that assess gender identity, gender expression, or gender dysphoria in transgender and gender-diverse (TGD) children and adolescents. We included studies published before Jan 20, 2020, that used tools to assess gender identity, expression, or dysphoria in TGD individuals younger than 18 years. Data were extracted from eligible studies using a standardised form. We found 39 studies that met the inclusion criteria, from which we identified 24 tools. The nature of tools varied considerably and included direct observation, child and adolescent self-report, and parent-report tools. Many methods have only been used with small samples, include outdated content, and lack evaluation of psychometric properties. In summary, a paucity of studies in this area, along with sparse reporting of psychometric properties, made it difficult to compare the relative use of tools, and current tools have substantial limitations. Future research is required to validate existing measures and create more relevant, culturally appropriate tools.

Slight-mild sensorineural hearing loss in children: audiometric, clinical, and risk factor profiles.

OBJECTIVES: Slight or mild hearing loss has been posited as a factor affecting speech, language, learning, and academic outcomes, but the risk factors for slight-mild sensorineural hearing loss (SNHL) have not been ascertained. The two specific aims for this research were (1) to describe the audiometric and clinical characteristics of children identified with slight-mild bilateral SNHL and (2) to compare children with slight-mild SNHL with those with normal hearing (NH) with respect to potential risk factors for congenital or acquired for hearing loss. DESIGN: A cross-sectional cluster sample survey of 6581 children enrolled in years 1 and 5 of Australian elementary school was completed. Children were screened for slight-mild SNHL, defined as a low- and/or high-frequency pure-tone average of 16 to 40 dB HL in the better ear, with air-bone gaps <10 dB. Children who did not pass the screen received air and bone conduction threshold and tympanometry tests to determine the type and degree of hearing loss. The parents of every child who participated in this study completed a questionnaire, before the hearing screening, to ascertain possible risk indicators. The questionnaire included items regarding the family's demographics, hearing status of family members, the presence of risk factors, and parental concern regarding the child's hearing. RESULTS: Fifty-five children with slight-mild SNHL and 5490 with NH were identified. Of the group with SNHL, 39 children had a slight loss (16 to 25 dB HL) and 16 had a mild loss (26 to 40 dB HL). The majority of the losses were bilateral and symmetrical, and the mean pure-tone average for the better ear for all 55 children was 22.4 dB HL (SD, 5.2). The most prevalent risk factor was "neonatal intensive care unit/special care nursery admission," which was reported for 12.5% of the SNHL and 8.4% of the NH group. Reported use of personal stereos was a significant risk factor with an odds ratio of 1.7 (95% confidence interval = 1.0 to 3.0, p = 0.05). The questions relating to parental concern for their child's hearing had low sensitivity (<30%) and very low positive predictive values (<3%) for detecting slight-mild SNHL. CONCLUSIONS: Slight-mild SNHL had a prevalence of 0.88% among the school-aged population sampled, with the majority of these children exhibiting bilateral, symmetrical audiometric configurations. Conventional risk factors for hearing loss were not strongly predictive of slight-mild SNHL nor were parental concerns about the child's hearing ability. The association between slight-mild SNHL and the parent report of personal stereo use suggests that this type of noise exposure may be a risk factor for acquired hearing loss. This seems to be the first documentation of such an association in a large sample of young children.

Youths with a non-binary gender identity: a review of their sociodemographic and clinical profile.

Many of the considerable number of young people who identify as transgender or gender diverse do not conform to traditional binary notions of gender (male vs female), and instead have a non-binary gender identity. This narrative Review summarises literature related to the sociodemographic and clinical profiles of young people with a non-binary gender identity. Young people identifying as non-binary form a substantial minority of the general population. They experience lower levels of support and are at increased risk of experiencing abuse and victimisation than young people who are cisgender. Furthermore, compared with young people who are transgender and binary, people who identify as non-binary experience less access to trans-specific health care. Young people identifying as non-binary have poor mental health outcomes, with high rates of depression, anxiety, and suicidal ideation that were found to be similar if not higher than in those who are transgender and binary. This Review highlights that young people who identify as non-binary are highly vulnerable and likely to have important health-care needs.

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Congenital hearing impairment (HI) is the most common sensory impairment and can be isolated or part of a syndrome. Diagnosis through newborn hearing screening and management through early intervention, hearing aids and cochlear implantation is well established in the Australian setting; however understanding the genetic basis of congenital HI has been missing. This population-derived cohort comprised infants with moderate-profound bilateral HI born in the 2016-2017 calendar years, detected through newborn hearing screening. Participants were recruited through an integrated paediatric, otolaryngology and genetics HI clinic and offered whole exome sequencing (WES) on a HiSeq4000 or NextSeq500 (Illumina) platform with a targeted average sequencing depth of 100x and chromosome microarray on the Illumina Infinium core exome-24v1.2 platform. Of those approached, 68% (106/156) consented to participate. The rate of genetic diagnosis was 56% (59/106), significantly higher than standard of care (GJB2/6 sequencing only), 21% (22/106). There were clinical implications for the 106 participants: 36% required no further screening, 9% had tailored screening initiated, 2% were offered treatment and 4% had informed care for a complex neurodevelopmental syndrome. WES in this cohort demonstrates the range of diagnoses associated with congenital HI and confirms the genetic heterogeneity of congenital HI. The high diagnostic yield and clinical implications emphasises the need for genomic sequencing to become standard of care.

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

INTRODUCTION: The aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Parents face a diagnostic odyssey when searching for a cause of their infant's hearing loss. Through the Melbourne Genomics Health Alliance, a prospective cohort of infants will be offered whole-exome sequencing (WES) with targeted analysis in conjunction with chromosome microarray to determine the genetic causes of congenital hearing loss. Parents will also be offered the opportunity to receive additional results from their infant's WES. METHODS: Eligible infants will be identified through the Victorian Infant Hearing Screening Program and offered an appointment in a paediatrician-run clinic, a genetics assessment and enrolment in the Victorian Childhood Hearing Impairment Longitudinal Databank. If parents consent to WES, genes causing deafness will be analysed and they can choose to obtain additional findings. For the additional results component, a modified laboratory protocol has been designed for reporting of results in the absence of a relevant phenotype. Parents' experience of being offered WES will be evaluated using surveys. DISCUSSION: This project will provide descriptive analysis of the genetic aetiology of congenital hearing loss in this cohort and may provide data on genotype-phenotype correlations. Additionally, choices regarding additional findings will be analysed. Participants will represent a diverse cross section of the population, increasing the ability to generalise results beyond the study group. Evaluation surveys will allow analysis of preferences around counselling, usefulness of a decision aid and adequacy of information provision.

Population Outcomes of Three Approaches to Detection of Congenital Hearing Loss.

BACKGROUND: Universal newborn hearing screening was implemented worldwide largely on modeled, not measured, long-term benefits. Comparative quantification of population benefits would justify its high cost. METHODS: Natural experiment comparing 3 population approaches to detecting bilateral congenital hearing loss (>25 dB, better ear) in Australian states with similar demographics and services: (1) universal newborn hearing screening, New South Wales 2003-2005, n = 69; (2) Risk factor screening (neonatal intensive care screening + universal risk factor referral), Victoria 2003-2005, n = 65; and (3) largely opportunistic detection, Victoria 1991-1993, n = 86. Children in (1) and (2) were followed at age 5 to 6 years and in (3) at 7 to 8 years. Outcomes were compared between states using adjusted linear regression. RESULTS: Children were diagnosed younger with universal than risk factor screening (adjusted mean difference -8.0 months, 95% confidence interval -12.3 to -3.7). For children without intellectual disability, moving from opportunistic to risk factor to universal screening incrementally improved age of diagnosis (22.5 vs 16.2 vs 8.1 months, P < .001), receptive (81.8 vs 83.0 vs 88.9, P = .05) and expressive (74.9 vs 80.7 vs 89.3, P < .001) language and receptive vocabulary (79.4 vs 83.8 vs 91.5, P < .001); these nonetheless remained well short of cognition (mean 103.4, SD 15.2). Behavior and health-related quality of life were unaffected. CONCLUSIONS: With new randomized trials unlikely, this may represent the most definitive population-based evidence supporting universal newborn hearing screening. Although outperforming risk factor screening, school entry language still lagged cognitive abilities by nearly a SD. Prompt intervention and efficacy research are needed for children to reach their potential.

Parent-reported health-related quality of life in children with congenital hearing loss: a population study.

OBJECTIVE: To report 1) health-related quality of life (HRQoL) in 7- to 8-year-old children with congenital hearing loss and 2) effects of severity and age of diagnosis on parent-reported child HRQoL. SETTING: State of Victoria, Australia. DESIGN: Two population-based cohorts of 7- to 8-year-old children. PARTICIPANTS: Cohort 1 consisted of 83 children (51 boys) fitted with hearing aids or cochlear implants for congenital hearing loss by 4.5 years, born before universal newborn hearing screening, and without intellectual disability (the Children with Hearing Impairment in Victoria OUTCOME Study). Cohort 2 consisted of 895 children representative of the Victorian 7- to 8-year-old school population (the 1997 Health of Young Victorians Study). OUTCOME: The 28-item parent-proxy Child Health Questionnaire measure of HRQoL. RESULTS: Response rate for cohort 1 was 67%; 22% had mild, 33% had moderate, 17% had severe, and 29% had profound hearing loss; and the mean nonverbal IQ was 105.4 (SD = 16.5). Children with hearing loss scored significantly more poorly than the normative sample on 6 Child Health Questionnaire scales (Role/Social-Physical, Behavior, Mental Health, Parent Impact-Emotional, Parent Impact-Time, and Family Activities) and on the Psychosocial Summary Score. HRQoL was poorer with milder losses, accounting for 10% and 11% of variance in the Physical and Psychosocial Summary scores, respectively. Age at diagnosis did not contribute significantly to the Summary scores, but only 11 children were diagnosed <6 months of age. CONCLUSIONS: Parent-reported psychosocial well-being of 7- to 8-year-old children with hearing loss is poorer than that of their hearing peers. Future studies should determine whether HRQoL has improved after introduction of universal newborn hearing screening.

The cost-effectiveness of universal newborn screening for bilateral permanent congenital hearing impairment: systematic review.

OBJECTIVE: Universal newborn hearing screening for bilateral permanent congenital hearing impairment is standard practice in many developed economies, but until there is clear evidence of cost-effectiveness, it remains a controversial use of limited health care resources. We conducted a formal systematic review of studies of newborn hearing screening that considered both costs and outcomes to produce a summary of the available evidence and to determine whether there was a need for further research. METHODS: A search was conducted of medical and nursing databases and gray literature websites by the use of multiple keywords. The titles and abstracts of studies were examined for preliminary inclusion if reference was made to newborn hearing screening, and to both costs and outcomes. Studies of potential relevance were independently assessed by 2 health economists for final inclusion in the review. Studies that met inclusion criteria were appraised by the use of existing guidelines for observational studies, economic evaluations and decision analytic models, and reported in a narrative literature review. RESULTS: There were 22 distinct observational or modeled evaluations of which only 2 clearly compared universal newborn hearing screening to risk factor screening for bilateral permanent congenital hearing impairment. Of these, the single evaluation that examined long-term costs and outcomes found that universal newborn hearing screening could be cost-saving if early intervention led to a substantial reduction in future treatment costs and productivity losses. CONCLUSIONS: There are only a small number of economic evaluations that have examined the long-term cost-effectiveness of universal newborn hearing screening. This is partly attributable to ongoing uncertainty about the benefits gained from the early detection and treatment of bilateral permanent congenital hearing impairment. There is a clear need for further research on long-term costs and outcomes to establish the cost-effectiveness of universal newborn hearing screening in relation to other approaches to screening, and to establish whether it is a good long term investment.

Children subjected to cardiac surgery for congenital heart disease. Part 1 - emotional and psychological outcomes.

This study investigated the psychological and emotional functioning of children with congenital heart disease (CHD) subjected to surgery. Children aged 2-12 years with CHD who underwent cardiac surgery were enrolled. Information was collected prior to surgery and 12 months or later following surgery. Measures included assessment of the child's receptive vocabulary, adaptive behaviour skills, emotional and behavioural development, temperament and parent quality of life, as well as surgical data. Similar information was collected from a control group prior to undergoing non-cardiac surgery. Of the 69 children contacted to enrol, completed pre- and post-surgical data were obtained from 39 children, and pre-surgical data from 12 controls. Children with CHD subjected to surgery displayed psychological and emotional functioning indistinguishable from normative populations or the control group. These findings persisted at reassessment 12-50 months after surgery. Psychological functioning at follow-up was most closely related to functioning prior to surgery. Significant residual defects and the need for further surgery were associated with poorer functioning. The results suggest an optimistic psychological and emotional outcome following cardiac surgery. This study may assist in identifying children most at risk of adverse outcomes after cardiac surgery and help guide therapeutic interventional programmes.

Children subjected to cardiac surgery for congenital heart disease. Part 2 - parental emotional experiences.

Parents experience considerable distress when their children are subjected to cardiac surgery. This study investigated their psychological and emotional experiences. As part of a prospective study reviewing the emotional and psychological outcomes of children aged 2-12 years subjected to cardiac surgery, that age group being chosen to allow for objective testing following infancy and before adolescence, their parents were assessed prior to and 12-50 months following the surgery. The measures reviewed their mental health, locus of control, family functioning and social support. There were 39 children. Most of the parental information was obtained from the mothers, who reported increased anxiety, and a tendency to attribute events to luck and/or chance greater than published norms, irrespective of the cardiac anomaly, whether the surgery was 'curative', or if further surgery was required. At follow-up, their ratings approximated to norms, except for a continued perception that life events were a function of fate and beyond one's control. The results confirmed that a substantial increase in the emotional distress of mothers at the time of surgery essentially resolved by 12 months or later. In contrast, they still seemed not to feel in 'control' when reviewed on follow-up.

Prevalence, stability, and outcomes of cry-fuss and sleep problems in the first 2 years of life: prospective community-based study.

OBJECTIVE: To report the prevalence and stability of cry-fuss problems during the first 4 months of life and sleep problems from 2 to 24 months and relationships between the persistence of cry-fuss and sleep problems and outcomes at 24 months. METHODS: The study was a prospective cohort study in maternal and child health centers in 3 local government areas in Melbourne, Australia. A total of 483 first-born infants were monitored prospectively from 2 weeks through 2, 4, 8, 12, 18, and 24 months. Child behavior, maternal depression, parenting stress, and marital quality were assessed. Predictor variables were parent reports of moderate or greater cry-fuss problems (2 and 4 months) and sleep problems (8, 12, 18, and 24 months) and parent-reported, 24-hour, sleep/cry-fuss diaries (2, 4, and 12 months). RESULTS: The response rate was 68% (483 of 710 infants); the attrition rate was <6%. The prevalence of cry-fuss problems decreased from 19.1% at 2 months to 12.8% at 4 months, with 5.6% of mothers reporting cry-fuss problems at both ages. Prevalence rates of sleep problems were 21.2%, 16.2%, 10.0%, and 12.1% at 8, 12, 18, and 24 months, respectively; 6.4% had a problem at > or =3 of these ages. In multivariate analyses, cry-fuss/sleep problems at > or =3 previous time points (but not 1 or 2 time points) contributed significantly to depression (2.8% of variance), total behavior (1.4% of variance), and total stress (4.6% of variance) scores. Repeated problems had a greater impact than a concurrent sleep problem on depression and stress scores, whereas the reverse was true for behavior scores. CONCLUSIONS: Most cry-fuss and sleep problems in the first 2 years of life are transient. Persistent, rather than transient, problems contribute to maternal depression, parenting stress, and subsequent child behavior problems.