Psychological assessments before and after treatment of early puberty in adopted children.

UNLABELLED: Early puberty is frequently observed in adopted children. This randomized trial treated 30 adopted children with early puberty and short stature with either gonadotropin-releasing hormone agonist (GnRHa) alone or in combination with growth hormone (GH) for 3 y. Before the start of treatment (T1) in the trial and at discontinuation (T2) the children and their parents underwent a psychological evaluation. At the start of treatment the children did not have increased levels of behavioural or emotional problems as assessed by the Child Behaviour Checklist (CBCL). During treatment the CBCL scores did not increase. Self-perception of the children appeared to be normal, and after 3 y a significantly higher score for acceptance by peers was observed. At T1, an overestimation of future height was present in 80% of the children and 17% of the parents. Lower family stress was observed at T1 and T2 compared with reference values. Intelligence quotient levels decreased significantly during treatment. The findings are discussed with reference to the reported levels of behavioural and emotional problems in adopted children and the psychosocial effects of precocious puberty. CONCLUSION: This psychological evaluation did not reveal any consistent abnormalities in adopted children with early puberty. Treatment with GnRHa with or without GH did not increase emotional and behavioural problems in adopted children, nor was their self-perception decreased.

[Differential diagnosis and treatment of girls with 46XY-karyotype and androgen insensitivity syndrome]. / De differentiaaldiagnose en behandeling van meisjes met het 46XY-karyotype en ondervirilisatiesyndroom.

The importance of the secretion and action of androgens during the critical period of male sexual development is exemplified in patients with androgen insensitivity syndrome. Their karyotype is always 46XY. In 2 sisters, aged 11 and 13 years, the androgen insensitivity syndrome was diagnosed based on an androgen receptor gene mutation. Ambiguous genital development of a new-born was shown to be due to a lack of testosterone production, based on a luteinizing hormone receptor gene mutation. Finally, in a phenotypically female new-born a gene mutation of 17-beta hydroxysteroid dehydrogenase type 3 was found to be responsible for insufficient testosterone synthesis during embryonic development. The presentation of a patient, and specifically a neonate, with abnormal genital development represents a difficult diagnostic and therapeutic challenge. Referral to a centre with experience in the diagnosis and management of disorders of sexual development is advised where the emphasis should be on psychological and genetic counselling.

Behaviour and school achievement in patients with early and continuously treated phenylketonuria.

Thirty patients with early and continuously treated phenylketonuria (PKU) between 8 and 20 years of age were compared with 30 controls, matched individually for age, sex, and educational level of both parents, on behaviour rating scales for parents and teachers as well as a school achievement scale. PKU patients, as a group, demonstrated more problems in task-oriented behaviour and average academic performance than did matched controls. Interestingly, whereas male PKU patients were rated significantly lower on introversion by their teachers, female patients were rated significantly higher on introversion and lower on extraversion than matched controls. This sex difference was also reflected in the relationship between measures of dietary control and the behaviour clusters, suggesting that male and female patients respond differently to elevated Phe levels or the stress associated with PKU. The teacher rating on average academic performance of the PKU patients was associated with recent level of dietary control, which suggests that it might be improved by more strict adherence to the diet. In addition, academic performance correlated negatively with the behaviour cluster negative task orientation. Further studies are recommended to obtain a more complete evaluation of this relationship and to replicate the current findings on larger samples. Over the years a number of studies have examined behaviour and school achievement in patients with early treated phenylketonuria (PKU; McKusick 261600). In general, these studies have found that despite early treatment with a phenylalanine (Phe)-restricted diet, PKU patients demonstrate more behavioural and school problems than do healthy controls. The behaviour problems include both internalizing symptoms (e.g. solitary, unresponsive, anxious, depressed mood: Pietz et al 1997; Smith et al 1988; Weglage et al 1992) and externalizing symptoms (e.g. hyperactive, talkative, impulsive, restless: Hendrikx et al 1994; Kalverboer et al 1994; Realmuto et al 1986; Smith et al 1988), but not antisocial or socially negative symptoms (e.g. lying, teasing, disobedience: Kalverboer et al 1994; Pietz et al 1997; Smith et al 1988). With respect to school achievement, studies have shown that patients with early treated PKU more often repeat classes or need special tutoring (Berry et al 1979; Brunner et al 1983; Koch et al 1987; Rey et al 1996; Verkerk 1995), have to work harder than healthy controls to achieve the same results (Weglage et al 1993), or have specific deficits in arithmetic achievement scores (Azen et al 1991; Berry et al 1979; Fishler et al 1987; Koch et al 1987; Weglage et al 1993). Nevertheless, many questions regarding the behavioural and school problems of patients with early treated PKU remain unanswered. For instance, the relationship between behavioural and school problems on the one hand and levels of dietary control on the other is still relatively unclear. The few studies that examined this relationship, have focused primarily on children in primary school (Azen et al 1991; Koch et al 1987; Smith et al 1988). Furthermore, although several psychological studies have shown that the pattern of behavioural problems varies by sex (see Prior et al 1999a for a discussion), so far very few studies have examined this issue in PKU patients and results are contradictory (Kalverboer et al 1994; Pietz et al 1997; Smith et al 1988; Weglage et al 1992). In addition, so far no study has actually examined whether there is a relationship between the behavioural problems and school difficulties of PKU patients, even though this relationship has been well documented in the psychological literature (Prior et al 1999b; Richards et al 1995). The aim of the present study is therefore to examine these issues in patients with early and continuously treated PKU over a wide age range and in relation to dietary control. More specifically, school achievement as well as social and task-oriented behaviour (at home

Androgen insensitivity syndrome (AIS): emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis.

The emotional reactions of parents and adult patients on disclosure of the clinical diagnosis of androgen insensitivity syndrome (AIS) and its later confirmation by gene mutation analysis were assessed. A semistructured interview and three questionnaires were used. Parents came from 18 different families with a total of 20 children (15 complete AIS, 5 partial AIS), 19 raised as girls, 1 as a boy. Ten adult women with complete AIS came from six families. The short-term reaction upon the clinical diagnosis was in the majority of both parents and adult patients associated with shock, grief, anger, and shame and in the mothers and adult patients with guilt. Emotional reactions were more long-lasting in mothers and adult patients than in fathers. The confirmation by DNA analysis did not alter the actual feelings of both parents. Adolescents with AIS should be informed completely - but in a step-by-step way - about their condition, since adult patients indicated that they had suffered from being not at all or misinformed about AIS in their adolescence.

[A daughter with Turner's syndrome: the impact on parents]. / Een dochter met het syndroom van Turner: de betekenis voor de ouders.

OBJECTIVE: To inventory the problems encountered by parents of girls with Turner's syndrome. DESIGN: Descriptive. SETTING: University Hospital Rotterdam-Sophia Children's Hospital, department of Child and Adolescent Psychiatry, Rotterdam, the Netherlands. METHOD: In 1995, structured interviews were held with 65 parents/pairs of parents (total 119 parents) of 66 girls with Turner's syndrome (36 aged 6-11 years and 30 aged 12-18 years) who participated in studies of the effect of growth hormone treatment. The questions concerned the parents' emotional reactions immediately after hearing the diagnosis and at the time of the interview, and the inner experience of their child's development. RESULTS: Immediately after the diagnosis, most parents felt sadness (95%) and shock (82%), approximately half were angry (61%) and ashamed (56%) and a minority felt guilt (29%). At the time of the interview (in 100 instances (84%) at least 5 years later), one-third of the parents still felt sadness, shock or anger and half felt ashamed. During the first few years of life, half the girls had been hospitalized at least three times, and feeding and sleeping also gave problems. Subsequently, the parents had problems with retarded motor development (67%), the acquisition of language (50%) and the restricted social skills of the child (67% were ragged a lot). Nearly all parents (90%) found their daughter's infertility difficult to cope with. They expected fewer opportunities for their daughter to find a job (38%) and (or) a partner (54%). CONCLUSION: Parents of girls with Turner's syndrome frequently find it difficult to cope emotionally with the fact that their child has this disorder, and with the problems regarding their daughter's linguistic and motor development and subnormal social skills.

Long-term psychological evaluation of intersex children.

Treatment of psychological problems of 59 children with a physical intersex condition is described. The group consisted of 18 female pseudohermaphrodites with congenital adrenal hyperplasia (CAH), 20 male pseudohermaphrodites and 2 true hermaphrodites born with ambiguous external genitalia assigned the female sex (ambiguous girls), 14 male pseudohermaphrodites born with completely female external genitalia and assigned the female sex (completely female group), and 5 male pseudohermaphrodites born with ambiguous external genitalia and assigned the male sex. Despite the sex assignment, genital organ correction soon after birth, psychological counseling of parents and intensive psychotherapy of the children, general psychopathology developed equally in all 4 groups (39% of total group). Although 87% of the girls with a physical intersex condition developed in line with the assigned sex, 13% developed a gender identity disorder though only 1 girl (2%) failed to accept the assigned sex. Gender identity disorder and deviant gender role were in evidence only in girls with CAH and girls of the ambiguous group. Biological and social factors seem responsible for the development of gender identity disorder, such as pre- and postnatal hormonal influences on the brain enabling deviant gender role behavior to develop, and an inability on the part of parents to accept the sex assignment. A reconsideration of the sex assignment in male pseudohermaphrodites and true hermaphrodites born with ambiguous external genitalia is discussed.

Psychosocial functioning of children, adolescents, and adults following hypospadias surgery: a comparative study.

Used standardized questionnaires to compare psychosocial functioning of 116 children and adolescents (9 to 18 years) and 73 adults (18 to 38 years) operated on for hypospadias, a congenital penile anomaly, with that of 88 and 50 age-matched comparison males, respectively, treated for an inguinal hernia. The relationships of coping with penile appearance, subject age, severity of hypospadias, number of operations, age at final surgery, and type of surgical procedure with psychosocial functioning were also investigated. Hypospadias patients did not exhibit a poorer psychosocial functioning and no significant relationships of various medical characteristics with psychosocial functioning could be discerned. Genital/body perception of hypospadias patients ages 9 to 18 years correlated positively with psychosocial functioning, albeit with low values. These findings are important for psychologists and specialists in the counseling process of hypospadias patients and their parents.

Evaluation of attention before and after 2 years of growth hormone treatment in intrauterine growth retarded children.

The objective of this study was to assess attention in children with short stature following intrauterine growth retardation (IUGR), at baseline and after 2 years of growth hormone (hGH) treatment. At baseline, all of the children had a birth height and a current height below the third centile. The attention measures (Sonneville Visual Attention Tasks: SVAT) of the IUGR group were compared with those of a comparison sample. In the baseline analyses, 48 children with IUGR and 119 comparison children were included; the 2-year follow-up analyses involved 41 children with IUGR and 68 comparison children. At baseline, children with IUGR showed deficits in divided, focused, and sustained attention. They were less accurate, exhibited more variability in reaction time, and performed more slowly and more impulsively than did the children in the comparison sample. After 2 years of hGH treatment, the IUGR group exhibited deficits in divided and sustained attention. They were still less accurate and showed more variability in reaction time and more impulsiveness. Current head circumference, the type of delivery, and global intelligence of children with IUGR were significantly correlated with attention measures. We hypothesize that short stature following IUGR and attention deficits are related, and that hGH treatment seems to have some beneficial effect on attentional capacity.

Satisfaction with penile appearance after hypospadias surgery: the patient and surgeon view.

PURPOSE: We studied the degree of agreement between hypospadias patient and surgeon satisfaction with the cosmetic surgical result, and the relation between penile length, meatal position and patient satisfaction. MATERIALS AND METHODS: Cosmetic and functional results in 35 boys with hypospadias were assessed, and a standardized questionnaire was completed by patients and surgeon. RESULTS: There was hardly any agreement between patient and surgeon satisfaction with patient penile appearance. Patients were less satisfied than the surgeon. No significant correlation was noted between penile satisfaction and penile length. Patients with a retracted meatus were less satisfied with the meatal position than those with a glanular meatus. Of the 35 patients 4 underwent repeat surgery after our study. CONCLUSIONS: Hypospadias surgeons should explicitly asked if patients are satisfied and they should follow patients through adolescence.

Self-concept before and after two years of growth hormone treatment in intrauterine growth-retarded children.

The objective of this study was to assess self-concept in children with short stature after intrauterine growth retardation (IUGR), before and after 2 years of growth hormone (hGH) treatment. We assessed 25 children before treatment, and 40 children after a 2-year treatment period. Seventeen of the 25 children of whom we had pretreatment data, were reassessed after 2 years of hGH treatment. All children had a birth length below the 3rd percentile, and did not show catch-up growth (current height < P3). We compared the self-concept measures (Self-Perception Profile for Children; SPPC) of the IUGR group with similar measures of a Dutch school sample. Four of the six SPPC mean scale scores of the IUGR group prior to treatment were significantly lower than mean scores of the school sample. Mean-scale scores of the group children, assessed after 2 years of hGH treatment, did not differ significantly from those of the school sample. In the group of 17 children who were assessed before as well as after 2 years of treatment, the mean scale scores of 'social acceptance' and 'general self-worth' were significantly higher at the second assessment (t = -5.93, p < 0.001 and t = -4.36, p < 0.001, respectively). From the present study we can hypothesize that short stature after IUGR and a low self-concept are related.

Psychosexual adjustment of children and adolescents after different types of hypospadias surgery: a norm-related study.

PURPOSE: We studied the psychosexual adjustment, sexual behavior and genital appraisal of 9 to 18-year-old hypospadias patients. MATERIALS AND METHODS: We interviewed 116 hypospadias patients and 88 comparison subjects in a semi-structured manner. RESULTS: Hypospadias patients had a more negative genital appraisal and anticipated more ridicule by a partner because of penile appearance than comparison subjects but they did not have a different sexual adjustment. No significant impact of medical treatment (surgical procedures, number of operations or age at final surgery) was noted. Many hypospadias patients (38.8%) desired functional or cosmetic penile improvement. CONCLUSIONS: In addition to procedures that bring the meatus to a more terminal position, those that bring it more ventral can be performed without negatively affecting psychosexual adjustment. Hypospadias patients were reluctant to seek advice for problems and, therefore, they should be followed through adolescence.

Psychosexual adjustment of men who underwent hypospadias repair: a norm-related study.

PURPOSE: Psychosexual adjustment, sexual functioning and genital appraisal were studied in adult hypospadias patients. MATERIALS AND METHODS: A total of 73 hypospadias patients and 50 comparison subjects received a semi-structured interview. RESULTS: More hypospadias patients (32.8%) than comparison subjects (12.8%) had been inhibited in seeking sexual contacts. Hypospadias patients reported a more negative genital appraisal than comparison subjects but did not have a different sexual adjustment. The severity of hypospadias negatively affected genital appraisal. Patient age at final operation positively correlated with sociosexual development. Many patients (37%) desired functional or cosmetic penile improvement. CONCLUSIONS: The majority of hypospadias patients experienced a normal adult sex life. They were reluctant to seek advice for problems. We recommend followup of patients through adolescence.

Information processing in patients with early and continuously-treated phenylketonuria.

UNLABELLED: A total of 33 patients with early and continuously-treated phenylketonuria (PKU) between 7 and 16 years of age and 33 matched controls participated in a study examining perceptual, central, and response-related mechanisms of information processing. The specific mechanisms studied were: perceptual filtering, memory search, response selection, response execution, and motor presetting. In addition, groups were compared on mean intelligence level and task oriented behaviour. The performance of the PKU patients practically matched that of the controls on all three tasks, suggesting that PKU patients who are continuously maintained on a well-controlled phenylalanine-restricted diet are not impaired in the elementary mechanisms of information processing. Furthermore, groups did not differ in mean IQ or task-oriented behaviour. CONCLUSION: These results underline the importance of continued, well-controlled dietary treatment. Further studies are recommended to obtain a more complete evaluation of the potential of PKU patients under these stricter dietary treatment conditions.

Social behaviour and task orientation in early-treated PKU.

In the context of the Dutch Collaborative Study on the Psychological Development of Children, early treated for Phenylketonuria (PKU), data were obtained on children's behaviour as perceived by parents (n = 53) and teachers (n = 57), using standardized behavioural questionnaires. Results are compared with a group representative of Dutch school-aged children (n = 1381) with a matched control group (n = 38), and with a group, to be considered as "Attention Deficit Hyperactivity Disorder" (ADHD, n = 38). Especially the clusters "negative task orientation" and "extraversion" distinguish between PKU children and controls. In parents' descriptions as well as in teachers' descriptions PKU children score higher in both clusters. Intriguing differences are found between PKU and ADHD. In parents' but not in teachers' descriptions PKU children show signs of negative task orientation almost to a similar degree as children with ADHD, but not of the signs of "negative social behaviour", characteristic for ADHD children. Data are discussed in terms of the effectiveness of early treatment and guidance.

Information processing deficits in children with early and continuously treated phenylketonuria?

Thirty-three patients with early and continuously treated classical phenylketonuria (PKU) and 33 controls matched for age, gender, and educational level of both parents, participated in a chronometric study exploring elementary mechanisms of information processing. Subjects performed speeded performance tasks designed to systematically vary the load on perceptual, central, and output-related mechanisms of information processing. A preliminary analysis of the data indicated that the overall performance of patients with early and continuously treated PKU practically matched that of the controls on all three tasks. Although this finding must be interpreted with caution as it is based on only a preliminary analysis of the data, it suggests that PKU patients who are continuously maintained on a well-controlled phenylalanine-restricted diet are not deficient in the elementary mechanisms of processing. Given the more recent findings indicating that young children with early-treated classical PKU have specific cognitive deficits in the executive function skills, despite relatively strict dietary control, the authors suggest that future studies should focus on these higher-order cognitive processes.

Phenylketonuria and some aspects of emotional development.

Early dietary treatment of phenylketonuria (PKU) prevents intellectual retardation and gross neurological impairment although not all neuropsychological problems. This study investigates to what extent the illness and its treatment imposes a burden on emotional development of early-treated PKU patients and on rearing practices of their parents. It is concluded that in early-treated PKU it is particularly difficult to find constructive ways to adapt to the situation for children as well as for parents. As coping with PKU and its treatment is so complicated, paediatric control should be combined with psychocounselling.

Psychosocial effects of two years of human growth hormone treatment in Turner syndrome. The Dutch Working Group: Psychologists and Growth Hormone.

Thirty-eight girls with Turner syndrome were treated for 2 years with human growth hormone. Both parents and patients carried out assessments of the effects of treatment on various aspects of psychosocial functioning. The children used the Piers-Harris Self-Concept Scale and the Social Anxiety Scale for children, while parents were interviewed and filled in the Child Behavior Checklist. Both parents and children used the Therapy Evaluation Scale and the Silhouette Apperception Technique. Teachers completed the Teacher Rating Form. Results showed no significant changes with treatment in self-concept or social anxiety, or in behavioural problems, though immature behaviour was less common after the treatment period. Therapy was evaluated positively, and improvements were apparent in both social and emotional functioning; about a quarter of the patients became more independent, happier and more involved in social interactions. Unrealistic perceptions of present height and expectations of future height were expressed by a large proportion of both children and parents.

[Intellectual development of patients with phenylketonuria; 15-year national screening in The Netherlands]. / De intellectuele ontwikkeling van patiënten met fenylketonurie; 15 jaar landelijke screening in Nederland.

OBJECTIVE: To evaluate the intellectual development of patients with phenylketonuria (PKU) or hyperphenylalaninaemia (HPA). DESIGN: Longitudinal follow-up study. SETTING: University Children's Hospitals of Amsterdam, Groningen, Nijmegen, and Rotterdam. METHODS: In September 1974 a nationwide neonatal screening for PKU started in the Netherlands. We obtained data on the intellectual development of 116 patients (101 classical PKU, 15 HPA), all detected and treated in the first 15 years of this screening. The children were tested at 6 ages with different instruments for the assessment of intellectual functions, and the scores were compared with the test norms. Performance and verbal capacities were determined as well as possible sex-related differences. RESULTS: Our data show that the levels of intellectual functioning of PKU and HPA patients do not differ from test norms until the age of 8 yr 6 months. In the older PKU patients there appears to be a trend towards lower IQ scores. We found no sex differences in the mental functioning of PKU patients. CONCLUSION: Continuation of this study is necessary in order to investigate possible negative effects of PKU on cognitive functioning, especially in the older age groups.