Developmental reading disorder: predictors of outcome in adolescents who received early diagnosis and treatment.

In this study of the course of developmental reading disorder, 40 Caucasian children, who were diagnosed and began reading therapy at 7-years-old were followed-up at 14-years-old. A variety of methodological concerns were addressed by careful screening of the subjects, by attempting to include a representative population, by comparing standardized measures statistically at initial and follow-up testing, and by using a homogeneously delayed population. It was found that 40% of the subjects were reading appropriately at follow-up. Improvement and recovery were significantly related to parents' educational status, especially to IQ, and not to gender of subject or to having a speech articulation or hyperactivity problem. It was concluded that for those who receive early diagnosis and treatment of developmental reading disorder (1) IQ may be a good predictor of recovery potential and (2) remedial efforts for the low IQ dyslexic child may be optimal if cognitive therapy is included in addition to reading therapy.     

Maternal estimates of mental age in developmental assessment

Objective: To examine the accuracy and clinical utility of maternal estimates of mental age in young children referred for developmental assessment.Methods : Mothers of 100 children aged 16 to 60 months referred for developmental evaluation to psychology services of Department of Pediatrics of a tertiary care teaching hospital were asked to estimate the mental age of their child. Maternal estimates were converted to intelligence quotient (IQ) and were compared to results from developmental tests of cognitive and adaptive behavior functioning which were administered to all children.Results : Maternal estimate IQ was highly correlated with IQ calculated from Developmental Profile II (r=.83, p<.001) and social quotient (SQ) calculated from Vineland Social Maturity Scale (r=.81, p<.001). Maternal estimate IQ was 82% sensitive to cognitive delay and 81% specific in identifying children likely to have normal development. Twenty seven percent of the maternal estimates were within ±5 IQ points of actual IQ. Mothers were more likely to overestimate their child’s functioning. Maternal IQ (Mean=62.1, S.D. =25.8) was significantly higher (t=2.93, p<.004) than the actual IQ (Mean=57.9, S.D.=21.9). Step-wise multiple regression analysis revealed that the child’s IQ and SQ explained 10% of the variance (F=6.40, p<.001) in maternal accuracy. The lower the SQ and IQ of the child, more accurate the estimates.Conclusion : Maternal estimates of mental age provide an accurate measure of developmental functioning in young children and may be used as a screening technique to identify a subset of children who need more detailed evaluation.     

Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction

Fourteen patients with classic phenylketonuria (PKU) were treated with a phenylalanine restricted diet from early infancy. All had satisfactory dietary control, with serum phenylalanine concentrations ranging between 2 to 5 mg/dL. Dietary restriction was discontinued in all these children between ages 5 and 6 years, and a free diet allowed. Developmental testing was performed using the Cattell Infant Intelligence Scales (1 to 2 years), Stanford-Binet Intelligence Scale (2 to 4 years), Wechsler Intelligence Scale for Children (WISC) and the revised version (WISC-R) (less than 5 years). Mean IQ for the group (Stanford-Binet and WISC) at termination of dietary therapy was 104 +/- 13. Four to 7 years after discontinuation of dietary therapy, mean IQ for the group was 90 +/- 13. The severity correlated, to some degree, with duration of unrestricted diet, but not with initial serum phenylalanine concentrations, age at initiation of therapy, or IQ at time diet was discontinued. Several children are experiencing difficulties, both attentional and academic, in school. Two children have had a change in the EEG from normal to abnormal. Neurologic testing performed after 4 to 7 years off diet demonstrated deficits in visual-motor integration or cognitive problem-solving in most children. The mean developmental age for the group for perceptual-motor integration was 1.2 years below the mean chronologic age of the group. This deterioration in intellectual function suggests that discontinuation of the phenylalanine-restricted diet is hazardous for some children with classic phenylketonuria.     

Age at diagnosis and abilities in idiopathic hypercalcaemia.

Forty three children aged 6 to 16 years with a documented history of idiopathic infantile hypercalcaemia were assessed on a variety of cognitive and behavioural measures. No relation was found between the age at which hypercalcaemia was diagnosed and subsequent full scale intelligence quotients (IQ) and reading or spelling abilities. Verbal IQ was, however, significantly higher than performance IQ, which had an inverse relation with age at diagnosis. Furthermore, scores for deviant behaviour were found to correlate with age at diagnosis. Thus the characteristic psychological profile of this syndrome may be in part a function of hypercalcaemia during infancy.     

Delay in diagnosis of Williams syndrome

Williams syndrome (WS) is a well-known genetic disorder with a variable phenotype. In many cases, physical manifestations are subtle and may not be apparent at an early age, making diagnosis difficult in infants and young children who lack classic manifestations such as supravalvular aortic stenosis and hypercalcemia. Clinical suspicion is essential because the diagnostic genetic finding is not detectable on routine chromosomal analysis. Furthermore, early diagnosis allows for earlier detection and treatment of developmental, behavioral, and medical problems. In an effort to understand how and why individuals with WS are diagnosed, we conducted a survey-based study of parents of WS children. Packets containing a cover letter, consent form, parental survey and preaddressed stamped envelope were distributed to parents of children with WS. The survey included questions concerning initial diagnosis, WS findings present, medical specialists involved, and tests performed. Forty-six completed surveys were returned for analysis. The mean age at diagnosis was 3.66 years (SD 4.13). The mean age at which there were initial concerns was 0.98 year (SD 1.24) resulting in a mean delay in diagnosis of 2.77 years (SD 4.10). In addition, the involvement of a geneticists correlated with earlier diagnosis (2.26 years vs. 5.09 years without geneticist involvement, p = 0.03) and fewer tests ordered (5.2 vs. 8.2 in the nongeneticist group, p = 0.0006). We observed a significant delay in the diagnosis of WS. Of note, the involvement of a geneticist was associated with earlier diagnosis and reduced number of tests.     

A retrospective hospital-based study on congenital hypothyroidism in the Sultanate of Oman

A retrospective study was conducted on 45 children with congenital hypothyroidism (CH) to estimate the number of missed cases of CH among Omani children per year and compare the intellectual outcome of children diagnosed by neonatal screening (Group A) with those who were diagnosed clinically at a later age (Group B). Our results revealed 14 children in Group A, diagnosed at a mean age of 2.3 +/- 0.8 months and 31 children in Group B diagnosed at a mean age of 9.8 +/- 2.5 months. IQ assessment revealed that 67 per cent of the children in Group A had a normal IQ compared to only 15 per cent of those in Group B. The above results point to a great demand for a national screening programme in the Sultanate of Oman.     

Histidinaemia: a benign metabolic disorder.

Histidinaemia is a relatively common inherited metabolic disorder with an incidence similar to phenylketonuria. This paper reports the long term outcome of patients diagnosed by newborn screening in the north west of England. Between 1966 and 1990, 108 infants were diagnosed as having histidinaemia by a regional neonatal screening programme (incidence 1:11,083). A further five children were detected following diagnosis in a sibling. Of the 113, nine were lost to follow up. Infants diagnosed before 1981 (n = 47) were placed on a low histidine diet (225 mg/kg/d) for an average period of 21 months (SD 4.5). All patients were reviewed regularly, Griffiths developmental quotients (DQ) were assessed at 2 and 4 years, and WISC-R intelligence quotients (IQ) at 8, 12, and 18 years. IQ data were converted to standard deviation scores (IQ SDS) to account for increasing IQ norms with time. Neither DQ nor IQ correlated with plasma histidine at diagnosis or with the mean plasma histidine throughout life. Growth was normal in all patients. There was no apparent benefit from a low histidine diet in early childhood. In contrast to other studies, there was no excess of clinical symptoms. On the basis of these findings, histidinaemia is a benign metabolic disorder that does not require treatment.     

Histidinaemia: a benign metabolic disorder

Histidinaemia is a relatively common inherited metabolic disorder with an incidence similar to phenylketonuria. This paper reports the long term outcome of patients diagnosed by newborn screening in the north west of England. Between 1966 and 1990, 108 infants were diagnosed as having histidinaemia by a regional neonatal screening programme (incidence 1:11,083). A further five children were detected following diagnosis in a sibling. Of the 113, nine were lost to follow up. Infants diagnosed before 1981 (n = 47) were placed on a low histidine diet (225 mg/kg/d) for an average period of 21 months (SD 4.5). All patients were reviewed regularly, Griffiths developmental quotients (DQ) were assessed at 2 and 4 years, and WISC-R intelligence quotients (IQ) at 8, 12, and 18 years. IQ data were converted to standard deviation scores (IQ SDS) to account for increasing IQ norms with time. Neither DQ nor IQ correlated with plasma histidine at diagnosis or with the mean plasma histidine throughout life. Growth was normal in all patients. There was no apparent benefit from a low histidine diet in early childhood. In contrast to other studies, there was no excess of clinical symptoms. On the basis of these findings, histidinaemia is a benign metabolic disorder that does not require treatment.     

Stability of Assessment Results of Autistic and Non-Autistic Language-Impaired Children from Preschool Years to Early School Age

The predictability, consistency in group means, and intra-individual stability of developmental quotients and performance IQs were assessed from preschool to school age for 71 autistic children and 71 non-autistic communication-handicapped children, matched on chronological age, sex and initial performance IQ/DQ. DQs/performance IQs at age 4 yrs were found to be highly correlated with performance IQ at age 10 yrs for both groups. Absolute difference scores and group means were also equivalent for both samples, with no difference in patterns of change or the relationship between performance IQ and language status, as measured on the PPVT. Differences between diagnostic groups occurred only for scores on the Vineland Social Maturity Scale and the relationship between these scores and IQ.     

Early clinical manifestations and intellectual outcome in children with symptomatic congenital cytomegalovirus infection

The Developmental Profile was completed on 32 prospectively followed children with symptomatic congenital cytomegalovirus infection (mean age 6 7/12 years; 78% white, 59% male). The distribution of intelligence and general developmental scores was bimodal; one group had severe deficits (mean IQ 28.8), the other had relatively less severe intellectual sequelae (mean IQ 91.6). Correlation analysis (Pearson r) showed that three variables--microcephaly, neurologic abnormalities, and chorioretinitis--when apparent during the first year of life, were all significantly associated with low intelligence. No correlation was found between IQ and severity of neonatal reticuloendothelial disease or hearing loss. Multiple regression analysis showed that age at testing, chorioretinitis, and neurologic sequelae accounted for 63% of the IQ variance in our sample. We conclude that children with symptomatic congenital cytomegalovirus infection have a greater range of intellectual outcomes than has been previously reported, and that certain early clinical manifestations may be useful in anticipating special needs.     

Outcome for congenital hypothyroidism.

In a study designed to provide retrospective control data for a neonatal thyroid screening programme, the problems of 141 hypothyroid children were examined. The mean IQ (Weschler intelligence scale) was 79.5 for children with congenital hypothyroidism but was normal in 6 children diagnosed before age 6 weeks. Diagnostic delay was associated with a steady decline in mean IQ but there was an improvement in some late diagnosed cases. A strong association was found between IQ and parental social class. Twenty five percent of the children were mentally retarded and 29% were at special schools; 54% of children at normal schools and 43% at special schools showed deviant behaviour. Other problems included clumsiness (26.2%) and squints (26.2%), and these were more common in children with a lower IQ. Congenital hypothyroidism is associated with persistent morbidity in many aspects of cerebral function. The adverse effects of prenatal hypothyroidism are largely reversible if treated before age 6 weeks.     

Ten-year survey of the intellectual deficits in children with acute lymphoblastic leukemia receiving chemoimmunotherapy

Effects of chemoimmunotherapy, including cranial irradiation for central nervous system (CNS)-directed therapy, on children with acute lymphoblastic leukemia (ALL) were investigated. Fifty-five children with ALL in continuous complete remission (<5 yr) and without evidence of current or past CNS diseases were evaluated in this retrospective study. Using standard measures of intelligence (IQ), we repeatedly (1–4 times/person; mean 2.1 times) evaluated IQ in the cohort of patients for the mean follow-up time of 9.7 yr, ranging from 5.4 to 15.8 yr. Fifty-five patients received the total number of 118 IQ testings and 40 patients received them more than twice. Patients were examined periodically at intervals of 1.4 to 10.0 yr (mean 4.8 yr) following diagnosis. Most of the published studies dealt with single IQ testing, and long-term follow-ups were not enough to assess the consequent IQ change. This report confirms and extends the previous findings: decreased IQ was related to age at diagnosis and irradiation (<5 yr of age at diagnosis), irradiation-examination interval, and female sex. Further long-term follow-up study will be needed in these groups, since their IQs are still on the decline even after 10 yr of diagnosis. © 1993 Wiley-Liss, Inc.     

The psychological development of children from Belarus exposed in the prenatal period to radiation from the Chernobyl atomic power plant

This study examined psychological development in 138 children at the age of 6-7 and 10-11 years, who had suffered prenatal radiation exposure at the time of the Chernobyl accident in 1986. These children were compared to a control group of 122 children of the same age from noncontaminated areas of Belarus. The examination included neurological and psychiatric examination, intellectual assessment, and clinical psychological investigation of parents as well as the estimation of thyroid exposure in utero. The exposed group manifested a relative increase in psychological impairment compared with the control group, with increased prevalence in cases of specific developmental speech-language disorders (18.1% vs. 8.2% at 6-7 years; 10.1% vs. 3.3% at 10-11 years) and emotional disorders (20.3% vs. 7.4% at 6-7 years; 18.1 vs. 7.4% at 10-11 years). The mean IQ of the exposed group was lower than that of the control group, and there were more cases of borderline IQ (IQ = 70-79) (15.9% vs. 5.7% at 6-7 years; and 10.1% vs. 3.3% at 10-11 years). The mean value of thyroid doses from 131I 0.4 Gy was estimated for children exposed in utero. No correlation was found between individual thyroid doses and IQ at age 6-7 years or 10-11 years. We notice a positive moderate correlation between IQ of children and the educational level of their parents. There was a moderate correlation between high personal anxiety in parents and emotional disorders in children. We conclude that a significant role in the genesis of borderline intellectual functioning, specific developmental disorders of speech, language and scholastic skills, as well as emotional disorders in the exposed group of children was played by unfavourable social-psychological and social-cultural factors such as a low educational level of parents, the break of microsocial contacts, and adaptational difficulties, which appear following the evacuation and relocation from the contaminated areas.     

Hearing impairment: a population study of age at diagnosis, severity, and language outcomes at 7-8 years.

BACKGROUND: Better language outcomes are reported for preschool children with hearing impairment (HI) diagnosed very early, irrespective of severity. However, population studies of older children are required to substantiate longer term benefits of early detection. AIMS: To study impact of age of diagnosis and severity of HI in a population cohort of 7-8 year old children. METHODS: Eighty eight 7-8 year old children born in Victoria, who were (a) fitted with hearing aids for congenital HI by 4.5 years and (b) did not have intellectual or major physical disability were studied. Main outcome measures were Clinical Evaluation of Language Fundamentals (CELF) and Peabody Picture Vocabulary Test (PPVT). Predictors were pure tone average (0.5, 1, 2 kHz) in better ear at diagnosis and age at diagnosis. Marginal (adjusted) means were estimated with general linear models. RESULTS: Response rate was 67% (n = 89; 53 boys). Mean age at diagnosis was 21.6 months (SD 14.4); 21% had mild, 34% moderate, 21% severe, and 24% profound HI; mean non-verbal IQ was 104.6 (SD 16.7). Mean total CELF score was 76.7 (SD 21.4) and mean PPVT score 78.1 (SD 18.1). Age of diagnosis, adjusted for severity and IQ, did not contribute to language scores. In contrast, adjusted mean CELF and PPVT language scores fell sequentially with increasing severity of HI. CONCLUSIONS: More severe HI, but not later diagnosis, was strongly related to poorer language outcomes at 7-8 years. Further systematic study is needed to understand why children with hearing impairment have good or poor outcomes.     

Hearing impairment: a population study of age at diagnosis, severity, and language outcomes at 7-8 years

Background: Better language outcomes are reported for preschool children with hearing impairment (HI) diagnosed very early, irrespective of severity. However, population studies of older children are required to substantiate longer term benefits of early detection. Aims: To study impact of age of diagnosis and severity of HI in a population cohort of 7–8 year old children. Methods: Eighty eight 7–8 year old children born in Victoria, who were (a) fitted with hearing aids for congenital HI by 4.5 years and (b) did not have intellectual or major physical disability were studied. Main outcome measures were Clinical Evaluation of Language Fundamentals (CELF) and Peabody Picture Vocabulary Test (PPVT). Predictors were pure tone average (0.5, 1, 2 kHz) in better ear at diagnosis and age at diagnosis. Marginal (adjusted) means were estimated with general linear models. Results: Response rate was 67% (n = 89; 53 boys). Mean age at diagnosis was 21.6 months (SD 14.4); 21% had mild, 34% moderate, 21% severe, and 24% profound HI; mean non-verbal IQ was 104.6 (SD 16.7). Mean total CELF score was 76.7 (SD 21.4) and mean PPVT score 78.1 (SD 18.1). Age of diagnosis, adjusted for severity and IQ, did not contribute to language scores. In contrast, adjusted mean CELF and PPVT language scores fell sequentially with increasing severity of HI. Conclusions: More severe HI, but not later diagnosis, was strongly related to poorer language outcomes at 7–8 years. Further systematic study is needed to understand why children with hearing impairment have good or poor outcomes.     

Intellectual performance after presymptomatic cranial radiotherapy for leukaemia: effects of age and sex

Cognitive outcome, as measured by verbal and performance IQs, was compared in 35 girls and 47 boys who were in first remission for acute lymphoblastic leukaemia. All children had received presymptomatic cranial radiotherapy and intrathecal methotrexate. The mean age at diagnosis was 4.2 years and the mean elapsed time from initial diagnosis to intellectual assessment was 7.1 years. Results showed that children irradiated before the age of 4 years were impaired in certain aspects of non-verbal ability, as well as in measures of short term memory and attention, calculated by factor scores derived from selected subtests of the IQ test. Subtests requiring verbal and non-verbal reasoning showed the greatest impairment after early diagnosis and treatment. In addition girls were selectively impaired in verbal IQ and other aspects of verbal ability, with the degree of impairment exacerbated by early treatment. No relationship was found between degree of impairment and either time since treatment or number of methotrexate injections. It is concluded that early age at irradiation increases the risk of impaired intellectual outcome, particularly in girls.     

Intellectual performance after presymptomatic cranial radiotherapy for leukaemia: effects of age and sex.

Cognitive outcome, as measured by verbal and performance IQs, was compared in 35 girls and 47 boys who were in first remission for acute lymphoblastic leukaemia. All children had received presymptomatic cranial radiotherapy and intrathecal methotrexate. The mean age at diagnosis was 4.2 years and the mean elapsed time from initial diagnosis to intellectual assessment was 7.1 years. Results showed that children irradiated before the age of 4 years were impaired in certain aspects of non-verbal ability, as well as in measures of short term memory and attention, calculated by factor scores derived from selected subtests of the IQ test. Subtests requiring verbal and non-verbal reasoning showed the greatest impairment after early diagnosis and treatment. In addition girls were selectively impaired in verbal IQ and other aspects of verbal ability, with the degree of impairment exacerbated by early treatment. No relationship was found between degree of impairment and either time since treatment or number of methotrexate injections. It is concluded that early age at irradiation increases the risk of impaired intellectual outcome, particularly in girls.     

Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation

Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most findings come from high‐risk samples, but reports on children screened in community settings are also needed. Methods: Stability of diagnosis and Autism Diagnostic Observation Schedule – Toddler Module (ADOS‐T) classifications and scores was examined across two time points in a sample of 82 children identified through the FIRST WORDS^® Project. Children received two comprehensive diagnostic evaluations at average ages of 19.39 (SD = 2.12) and 36.89 (SD = 3.85) months. Results: Stability was 100% when confirming and ruling out a diagnosis of ASD based on a comprehensive diagnostic evaluation that included clinic and home observations, although diagnosis was initially deferred for 17% of the sample. Receiver Operating Characteristic curves revealed excellent sensitivity and acceptable specificity for the ADOS‐T compared to concurrent diagnosis. Logistic regressions indicated good predictive value of initial ADOS‐T scores for follow‐up diagnosis. Finally, both ASD and Non‐ASD children demonstrated a decrease in Social Affect scores (i.e., improvement), whereas children with ASD demonstrated an increase in Restricted and Repetitive Behavior scores (i.e., worsening), changes that were accounted for by nonverbal developmental level in mixed model analyses. Conclusions: Short‐term stability was documented for children diagnosed at 19 months on average, although a minority of children initially showed unclear diagnostic presentations. Findings highlight utility of the ADOS‐T in making early diagnoses and predicting follow‐up diagnoses. Children with ASD demonstrated improvement in social communication behaviors and unfolding of repetitive behaviors, suggesting that certain early patterns of change in symptoms may be characteristic of ASD.     

Etiologic yield of subspecialists' evaluation of young children with global developmental delay

OBJECTIVE: To determine the etiologic yield of subspecialists' evaluation of young children with global developmental delay. In addition, variables that may predict finding an underlying etiology were also identified. METHODS: All children <5 years of age, referred over an 18-month period to subspecialty services for initial evaluation of a suspected developmental delay, were prospectively enrolled. Diagnostic yield was ascertained after the completion of clinical assessments and laboratory investigations requested by the evaluating physician. RESULTS: Ninety-nine children (71 boys) were found to have global developmental delay; 96% had a mild or moderate delay documented. An etiologic diagnosis was determined in 44. Four diagnoses (cerebral dysgenesis, hypoxic-ischemic encephalopathy, toxin exposure, chromosomal abnormalities) accounted for 34 of 44 (77%) of the diagnoses made. The presence of co-existing autistic traits was associated with significantly decreased diagnostic yield (0/19 vs 44/80, P <.0001), whereas specific historical features (eg, family history, toxin exposure, and perinatal difficulty; 23/32 vs 21/67, P =.0002) and findings on physical examination (eg, dysmorphology, microcephaly, and focal motor findings; 35/48 vs 9/51, P <.0001) were significantly associated with identifying a diagnosis. Multiple logistic regression analysis identified antenatal toxin exposure, microcephaly, focal motor findings, and the absence of autistic traits as significant predictor variables for the identification of an etiology. CONCLUSION: An etiologic diagnosis is often possible in the young child with global developmental delay, particularly in the absence of autistic features. Etiologic yield is augmented by presence of specific findings on history or physical examination on initial assessment.     

Attention-deficit/hyperactivity disorder in children: excess costs before and after initial diagnosis and treatment cost differences by ethnicity

OBJECTIVES: To estimate the excess costs for children in the years surrounding initial diagnosis of attention-deficit/hyperactivity disorder (ADHD) and to estimate differences in treatment costs by ethnicity. DESIGN: We identified children diagnosed with ADHD and estimated their health service costs in the 2 years before and 2 years after initial diagnosis of ADHD. Costs were compared with those for children without ADHD. We adjusted for age, sex, ethnicity, pharmacy co-pay, estimated family income, coexisting mental health disorders, and chronic medical conditions. SETTING: Nonprofit, integrated health care delivery system in northern California from January 1, 1996, to December 31, 2004. PARTICIPANTS: Children aged 2 to 10 years with (n = 3122) and without (n = 15 899) ADHD.Main Exposure Attention-deficit/hyperactivity disorder. MAIN OUTCOME MEASURES: Health care costs and use in the years before and after initial ADHD diagnosis as well as costs of ADHD-related services. RESULTS: Compared with children without ADHD, children with ADHD had mean costs that were $488 more in the second year before their ADHD diagnosis, $678 more in the year before their diagnosis, $1328 more in the year after their diagnosis, and $1040 more in the second year after their diagnosis. Asian Americans diagnosed with ADHD had lower total ADHD-related mean costs per year than white Americans diagnosed with ADHD ($221 lower), and Asian Americans, African Americans, and Hispanic Americans all had lower ADHD-related pharmacy mean costs than white Americans ($95, $63, and $77 lower, respectively). CONCLUSIONS: Children with ADHD use significantly more health services before and after their diagnosis than children without ADHD. Among children diagnosed with ADHD, nonwhite Americans (especially Asian Americans) use fewer ADHD-related services than white Americans.