Cleft lip with or without palate (CLP) can be diagnosed antenatally through ultrasound, and may be categorised as apparently isolated versus associated with other malformations. Limited data exist on the long-term outcomes following antenatal diagnosis of apparently isolated CLP.
This study examined the long-term post-natal outcomes of CLP when found in isolation antenatally, in order to determine the rates of unexpected additional anomalies, developmental delay or genetic syndromes.
A retrospective chart review of antenatal and post-natal medical charts was completed for a ten-year period between January 2000 and December 2009. At least 2 years of available post-natal clinical information was required for inclusion in the study.
A total of 97 cases of antenatally isolated CLP were ascertained. Fifteen pregnancies were terminated. Follow-up data were available for 81 liveborns, though 4 were lost to follow-up prior to 2 years of age. Twelve of the 77 children meeting study criteria were identified to have other major malformations and/or developmental disability either later in the pregnancy or post-natally. Findings included familial clefting syndromes, trisomy 21, autism spectrum disorders, brain malformations, fetal alcohol syndrome and Kabuki syndrome, among other findings. Another 11 children had additional anomalies of minor impact. Examples of findings include a perimembranous ventricular septal defect, mild unilateral optic nerve hypoplasia, mild pulmonary artery stenosis with a small atrial septal defect, and transient delays in fine and gross motor skills. No children with clefting of the lip only had major additional diagnoses.
To determine the accuracy and feasibility of a monitoring tool completed by parents for screening at-risk and community infants and children for developmental problems.
We assessed 43 children following open-heart surgery and 68 community children (aged 4-36 mo) at prescribed intervals using the Ages and Stages Questionnaires (ASQ). Subjects were followed 3 years later (at age 5-6 yr) via telephone interview with their parents concerning developmental delay identified by physicians. Responses were confirmed by telephone interviews with family physicians. We then compared the results of the ASQ with the physician assessments.
Nine at-risk and 9 community children were lost to follow-up. The ASQ identified 4 of the 25 at-risk children as having developmental delay, while 2 of the 6 children assessed by a neurologist were identified as having developmental delay. The ASQ identified 2 of the 59 community children as having developmental delay, 1 of whom was assessed by a neurologist as having developmental delay. The ASQ had sensitivities of 75% in the at-risk group and 100% in the community group, and specificities of 95% and 90%, respectively. The parents were unanimous in their willingness to complete the assessments.
The ASQ is feasible, inexpensive, easy to use, and was appreciated by the parents. It is a sufficiently sensitive and specific monitoring tool that its use in cardiac follow-up programs and in community programs for healthy children is warranted. Although this tool should not be used to replace clinical assessment, it can be used to rationalize access to specialist developmental assessment services.
Nutritional factors in early life may contribute to the neurodevelopmental deficit in schizophrenia. This study explores the influence of maternal body size, size at birth, and childhood growth on future risk for schizophrenia.
This population-based cohort study comprised births at Helsinki University Central Hospital in Helsinki, Finland, from 1924 to 1933. Prospective data from birth and school health records of 7086 individuals were collected and linked to the Finnish Hospital Discharge Register.
Schizophrenia or schizoaffective disorder had been diagnosed in 114 individuals. A lower late-pregnancy maternal body mass index (BMI) increased the risk (odds ratio [OR], 1.09 per kilogram/meter(2); 95% confidence interval [CI], 1.02-1.17) for schizophrenia among the offspring. The risk of schizophrenia increased with low birth weight (OR, 1.48 per kilogram; 95% CI, 1.03-2.13), shortness at birth (OR, 1.12 per centimeter; 95% CI, 1.03-1.22), and low placental weight (OR, 1.22 per 100 g; 95% CI, 1.04-1.43). Schizophrenia cases were thinner than comparison subjects from 7 to 15 years of age. In a joint model comprising late-pregnancy maternal BMI, body size at birth, and childhood BMI, childhood BMI was an independent predictor of schizophrenia, whereas other factors exhibited attenuated effects.
Indicators of intrauterine and childhood undernutrition are associated with an increased lifetime risk of schizophrenia.
The aims of this study were to estimate prevalence rates of children with autism spectrum disorder (ASD) diagnoses in a cohort of 6-year-old children with birth year 2002, referred to the Autism Centre for Young Children, serving the whole of Stockholm county and on the basis of the available data discuss clinical aspects of assessment, habilitation and follow-up. Records of 142 of a total of 147 (123 boys and 24 girls) identified children with ASD diagnoses were scrutinised with respect to type of diagnosis, cognitive level, other developmental disorders and medical/neurological disorders. The overall prevalence of such disorders was 6.2/1000 (95% confidence interval 5.2-7.2/1000). The rates of learning disability/mental retardation, developmental delay without a specified cognitive level and normal intelligence constituted about one third, respectively. AS and atypical autism tended to be diagnosed more often at age 5-6 years while AD with learning disability/mental retardation was more often diagnosed at age 3-4 years. The awareness of ASDs has resulted in increasing numbers of children being diagnosed at young ages. We conclude that it is important to take into account these children's broader developmental profiles, need for repeated assessment of cognitive functions and follow-up over time and also the requirement for medical/neurological consideration and work-up.
Little is known about the familial characteristics of children diagnosed during childhood as having a developmental language disorder (DLD). This study aimed to investigate the prevalence of autism spectrum disorders (ASD) in siblings of probands diagnosed during childhood as having a DLD. In order to estimate the prevalence of ASD, 908 siblings of 469 probands diagnosed during childhood as having a DLD, and 3,802 siblings of 2,345 controls from the general population, without a known history of DLD, were screened for ASD through the nationwide Danish Psychiatric Central Register (DPCR). The mean length of observation was 35.2 years and 34.8 years, respectively, and the mean age at follow-up 38.4 years and 37.4 years, respectively. At follow-up one sibling (0.1%) in the DLD case group and eight siblings (0.2%) in the comparison group were known in the DPCR with a diagnosis of any ASD (P = 0.53; OR = 0.52; 95%CI 0.07-4.19). Thus our results provide no support for a familial association between DLD and ASD.
BACKGROUND: Reliable, valid, and easy-to-administer instruments to identify possible caseness and to provide proxies for clinical diagnoses are needed in epidemiological research on child and adolescent mental health.The aim of this study is to provide further validity data for a parent telephone interview focused on Autism--Tics, Attention-deficit/hyperactivity disorder (AD/HD), and other Comorbidities (A-TAC), for which reliability and preliminary validation data have been previously reported. METHODS: Parents of 91 children clinically diagnosed at a specialized Child Neuropsychiatric Clinic, 366 control children and 319 children for whom clinical diagnoses had been previously assigned were interviewed by the A-TAC over the phone. Interviewers were blind to clinical information. Different scores from the A-TAC were compared to the diagnostic outcome. RESULTS: Areas under ROC curves for interview scores as predictors of clinical diagnoses were around 0.95 for most disorders, including autism spectrum disorders (ASDs), attention deficit/hyperactivity disorder (AD/HD), tic disorders, developmental coordination disorders (DCD) and learning disorders, indicating excellent screening properties. Screening cut-off scores with sensitivities above 0.90 (0.95 for ASD and AD/HD) were established for most conditions, as well as cut-off scores to identify proxies to clinical diagnoses with specificities above 0.90 (0.95 for ASD and AD/HD). CONCLUSIONS: The previously reported validity of the A-TAC was supported by this larger replication study using broader scales from the A-TAC-items and a larger number of diagnostic categories. Short versions of algorithms worked as well as larger. Different cut-off levels for screening versus identifying proxies for clinical diagnoses are warranted. Data on the validity for mood problems and oppositional defiant/conduct problems are still lacking. Although the A-TAC is principally intended for epidemiological research and general investigations, the instrument may be useful as a tool to collect information in clinical practice as well.
Obtaining a diagnosis of developmental co-ordination disorder (DCD) is a long, inconsistent and frustrating journey for families, with apparently little awareness of DCD in schools or the medical community.
An online survey was completed by 1297 participants: parents (n = 501), teachers (n = 202), family/general physicians (n = 339) and paediatricians (n = 255).
Only 20% of the sample had knowledge of DCD, with 41% of the paediatricians and 23% of family/general physicians familiar. Of participants who have awareness, only 11-59% have knowledge of the impact of DCD on social, emotional and physical health. Less than 30% of physicians have awareness of the secondary consequences. Few physicians diagnose DCD and less than one-third believe it is easy to make a diagnosis; this is in contrast to the fact that most parents report confidence in their physician's ability to make a timely diagnosis.
If less than one-half of physicians have knowledge of DCD and even fewer are knowledgeable of the secondary consequences of the condition, it is not surprising that DCD is infrequently diagnosed and that families need to search for support. This survey confirms observations that the condition is not well known and there is a need for greater awareness of DCD.
Whether children with autistic spectrum disorders (ASD) and their families are receiving recommended assessments and services is poorly known. This pilot study examined service receipt as reported by parents of young children with ASD (n = 64) from four specialty centers in Canada. While almost all children had a speech and language assessment (94%), less than half had psychological (42%), or genetic (31%) testing. Speech and language (88%) and occupational (78%) therapies were the most frequently received treatments. Overall, certain findings did not correspond to recent recommended practice guidelines. Future studies should obtain more detailed information on assessments and treatments received from larger and more representative samples to better determine the quality of care received by families with children with ASD.
Mental health surveillance in infancy was studied in an existing child health surveillance programme with child psychiatric disorder at 1(1/2) year as the outcome. METHODS: Children considered of concern by community health nurses were cases in a case control study nested in the Copenhagen Child Cohort (CCC 2000). Outcome was mental health status at 1(1/2) year assessed by clinical and standardised strategies, including videotape recordings, parent interviews and the instruments: CBCL 1(1/2)-5, ITSCL, CHAT, Bayley Scales of Infant Development II, PC ERA and PIR-GAS. RESULTS: The positive predictive value of concern in the first 10 months of living was 24% (CI 17.0-31.9), the negative predictive value was 85% (CI 77.9-89.6) and the sensitivity was 56% (CI 42.4-69.0). Concern about development was significantly associated with the child having a neuro-developmental disorder at 1(1/2) year, and concern about mother-child relationship was associated with emotional, behavioural, eating, and sleeping disturbances. CONCLUSIONS: A general health surveillance program seems to have potentials to identify infants at risk for mental health problems provided standardised measures and specific training of the involved health professionals.
The risk of cerebral palsy (CP) is high in preterm infants and is often accompanied by additional neurodevelopmental comorbidities. The present study describes lifetime prevalence of CP in a population-based prospective cohort of children born extremely preterm, including the type and severity of CP and other comorbidities (ie, developmental delay and/or cognitive impairment, neurobehavioral morbidity, epilepsy, vision and hearing impairments), and overall severity of disability. In this study, we also evaluate whether age at assessment, overall severity of disability, and available sources of information influence outcome results.
All Swedish children born before 27 weeks' gestation from 2004 to 2007 were included (the Extremely Preterm Infants in Sweden Study). The combination of neonatal information, information from clinical examinations and neuropsychological assessments at 2.5 and 6.5 years of age, original medical chart reviews, and extended chart reviews was used.
The outcome was identified in 467 (94.5%) of eligible children alive at 1 year of age. Forty-nine (10.5%) children had a lifetime diagnosis of CP, and 37 (76%) were ambulatory. Fourteen (29%) had CP diagnosed after 2.5 years of age, 37 (76%) had at least 1 additional comorbidity, and 27 (55%) had severe disability. The probability for an incomplete evaluation was higher in children with CP compared with children without CP.
Children born extremely preterm with CP have various comorbidities and often overall severe disability. The importance of long-term follow-up and of obtaining comprehensive outcome information from several sources in children with disabilities is shown.