[Neuropsychiatric outcome in patients with congenital hypothyroidism precautiously treated: Risk factors analysis in a group of patients from Tuscany]. / Outcome neuropsichico nell'ipotiroidismo congenito precocemente trattato: analisi dei fattori di rischio in un campione toscano.

AIM: In order to avoid an excessive medical monitoring and to obtain more functional medical controls for the outcome of children with early treated congenital hypothyroidism, the results of a neurological and psychiatric follow-up performed in area Pisana since 1990 are revised. This analysis gives some indications to get over the differences of the various methodological approaches and to get better rehabilitation treatment in respect to the individual needs. METHODS: Our study group includes 52 children with early treated congenital hypothyroidism; a semiquantitative score was used to assess sociocultural level (SCL) of the family. Cognitive and language performances were evaluated by Griffiths Mental Development Scale and with Wechsler Intelligence Scale for Children (WISC-R). RESULTS: Study group mean total scores in cognitive tests are within the normal range, motor and language impairments have been noted, instead. These skills are significantly correlated with pretreatment serum thyroxine (T4). In addition a low SCL is a great risk factor for the occurrence of mild impairments in neuropsychological development. CONCLUSIONS: In arranging the neuropsychological follow-up in early treated congenital hypothyroidism it is recommended to keep in mind the importance of the combination of neonatal endocrinological factors (in particular, pretreatment serum thyroxine) and SCL on the cognitive, motor and language development.

Social adjustment in children with Down mental retardation (MRD) and Fragile-X mental retardation (MRX).

BACKGROUND: Since adjustment abilities became important in mental retardation (MR) diagnosis, it seemed interesting to study social adjustment in persons with MR Down (RMD) and MR Fragile-X (RMX). These two syndromes are the most common causes of MR of chromosomal origin. To evaluate the influence of temperament insofar as behavior and temperament are concerned in social adjustment, we studied temperamental dimensions (emotionality, activity, sociability and shyness) and social functioning (attention problems and withdrawal). METHODS: Our study group was composed of 35 children with MR; 23 with RMD (F=14) age range 4 to 21, and 12 (F=1) with RMX age ranged from 5 to 19. #Social adjustment was evaluated by two scales: EAS and CBCL. RESULTS: The six evaluated dimensions of adjustment functioning (emotionality, activity, sociability, shyness, attention problems and withdrawal) differ in the two MRD and MRX groups. MRX scores are all higher except for sociability; shyness, attention problems and emotionality show a significant difference. CONCLUSIONS: The RMX group is that one may have more difficulty in social adjustment. This is because they are characterized by hyperactivity, withdrawal, low attention, low social function and high emotionality that are all negative symptoms for a social adjustment. In our study group MRD have higher values in the sociability area and they don't show relevant behavioral disorders and they have got more adaptive abilities. We may hypothesize that this attitude is a part of their genetic structure, and also that the best social adjustment of Down persons may be linked to a better interaction with the environment.

Neuropsychological follow-up in early-treated congenital hypothyroidism: a problem-oriented approach.

Screening programs for congenital hypothyroidism (CH) dramatically improved the neuropsychological prognosis in affected children. However, mild impairments in cognitive performances, poorer motor skills, defective language abilities, and learning problems have been reported in some studies of early-treated CH children. The occurrence of these defects makes neuropsychological follow-up mandatory. The aim of the present study was to identify those neuropsychological functions that are more frequently affected in early-treated CH children and that might require prompt rehabilitation treatment to prevent permanent defects. The study group involved 24 CH children. Levothyroxine (LT4) treatment (initial dose 8-10 microg/kg per day) was started at mean age of 28 days (range 15-45) and was then adjusted with the goal to keep thyrotropin (TSH) and free thyroid hormone levels in the normal range. Cognitive evaluation was performed at 3, 5, and 7 years of age and did not significantly differ from that of controls. Mean neurological scores were lower in children 5 years of age than in controls. Children with severe neonatal hypothyroidism (serum thyroxine [T4] < 2 microg/dL) had significantly lower neurological scores compared to less affected CH children and normal controls. The most affected functions were balance, extremity coordination, fine motricity, quality of movements, associated movements, and head movements. Language disorders were observed in half of CH children at 3 and 5 years of age, but moderately severe defects were restricted to those with severe neonatal hypothyroidism. In conclusion, a problem-oriented, simplified neuropsychological follow-up of early-treated children with CH should not systematically include the frequent repetition of time-consuming and expensive psychometric tests because individual IQ scores are in the normal range of tests in almost all CH children and can be differentiated from those of normal controls only on a population-statistic basis. Selected tests of motor proficiency are indicated at 3 and 5 years of age to detect those defects in motor skills that appear to be more specifically affected in CH children. Language performances are at particular risk in CH children, and should be always checked at 3 and 5 years of age. Children with even mild language disorders or delayed language achievements should be regularly reevaluated at 6-month intervals and, if no spontaneous improvement is observed, they should receive specific rehabilitation treatment. No further motor and language evaluation is warranted in CH children with normal tests at age 5 years.

[Outpatient neuropsychiatric consultation in a pediatric hospital. Clinical considerations]. / Un'esperienza di consulenza neuropsichiatrica ambulatoriale in un reparto di pediatria. Considerazioni cliniche.

BACKGROUND: In this study, personal experience as neuropsychiatric consultants in a pediatric hospital is reported. Infancy and adolescence neuropsychiatrics' and pediatricians' common aim is to evaluate a child in his entirety and to protect his physical and mental health. METHOD: 327 patients (147 males and 180 females) aged ranged 0 to 18 years, address to hospital by their pediatricians from January 1993 to January 1998 have been evaluated. RESULTS: Mental disorders have been diagnosed in 95% of the examined population (mental disorders classified by DSM IV criteria) the way in which mental disorders were distributed according to age and sex has been analyzed, and the therapeutic approaches discussed. Neuropsychiatric advice is requested especially for somatic and developmental disorders. Sex distribution is equal, apart from conduct disorders and pervasive developmental disorders, which are more frequent in males. Somatic, anxiety and mood disorders are more evident in children older than 6 years, developmental and neurological disorders are more evident in younger children. CONCLUSIONS: Outpatient advice is a valid help to screen neuropsychiatric disorders and it offers the possibility to carry out short and effective evaluations and controls with a significant reduction of costs for medical assistance.

School attainments in children with congenital hypothyroidism detected by neonatal screening and treated early in life.

OBJECTIVE: Evaluation of school attainments in children with congenital hypothyroidism (CH) detected by neonatal screening and treated early in life. PATIENTS AND METHODS: Text comprehension, mathematics, reading, writing and verbal and spatial memory, as indices of school learning, were evaluated in nineteen 5- to 10-year-old children with CH attending nursery or elementary school. l-Thyroxine substitution (starting dose 8-10 microg/kg body weight per day) was initiated at a mean age of 30+/-10 days of life. The control group included 298 unaffected children matched with the CH children for age and school grade. Thirty per cent of controls were classmates of CH children. Intelligence quotients (IQ), language performances and motor development were evaluated in CH children at age 5 years, and were related to their school attainments. School performances of CH children were also compared with their neonatal serum thyroxine (T4) concentration, and with the social-cultural level of the family. RESULTS: Four out of 19 (21%) children with CH, 3 in the nursery and 1 in the elementary school, displayed a generalized learning disorder. Symbol copy, geometric copy, phrase repetition, dictation writing and spontaneous writing were particularly defective in nursery school CH children, while orthographic error recognition was defective in elementary school CH children. School learning disorders in CH children were significantly correlated with a borderline-low IQ, poor language performances and a low social-cultural level of the family, but not with motor skills or neonatal T4 concentration. CONCLUSION: School attainments of early treated CH children were within the normal range in most affected cases. However, about 20% of CH children, most of them attending nursery school, showed a generalized learning disorder. Low IQ scores and poor language performances at age 5 years were associated with defective learning, mainly in CH children living in a poor social-cultural environment. In this subset of CH children, prompt initiation of speech and psychomotor rehabilitation therapy is recommended in order to prevent subsequent school learning disorders.

[Early treated congenital hypothyroidism. Evaluation of school learning]. / Ipotiroidismo congenito precocemente trattato. Valutazione dell'apprendimento scolastico.

BACKGROUND: The aim of this paper was to evaluate school learning in early treated CH children in order to investigate whether and how this pathology influences school performance. METHODS: Using a sample of 50 early treated CH children who have received regular follow-up at our Institute, 20 subjects attending primary (grade) school or the final year of nursery school for assessment of school learning have been selected. Results were compared with a class/grade matched control group. Evaluations of cognitive, motor and language development, T4 level determined at birth, thyroid disorder and socio-cultural level of the family background were examined in relation to the school performance of each child. RESULTS: The evaluations showed that out of 20 CH children, 5 (25%) presented generalized learning disorders. This percentage is higher than in the normal population (3.4%). When learning disorder findings were correlated with data pertaining to motor, speech and cognitive development, socio-cultural level and thyroid disorder, it was found that children with generalized learning difficulties presented more severe motor and speech disorders, a lower intelligence quotient and a lower socio-cultural background than children achieving higher scores in school tests. CONCLUSIONS: The conclusion is drawn that early treated CH children of same age have more learning difficulties during nursery school, while they have normal learning performances during primary school.

[Psychopathological aspects in a group of children and adolescent with insulin-dependent diabetes mellitus]. / Caratteristiche psicopatologiche in un gruppo di bambini e adolescenti con diabete mellito insulino-dipendente.

BACKGROUND: We have studied a group of children and adolescents with IDDM to evaluate their personality features and family relationship to point out elements of psychopathological risk or evident mental disorders. Our study group is composed of 30 subjects (age range 7-19 years) with IDDM for at least one year. METHODS: The methods employed were interviews to patients and their parents for the attitude towards the illness (done separately), Rutter scale for parents, an anxiety scale for children and adolescents (Busnelli) and a questionnaire about knowledge of diabetes (GISED). In the interviews with parents anamnestic data were collected with particular attention to early symptoms of mental disorder. Metabolic control was tested by the HbA1c measure using high pressure column chromatography, in the same laboratory. RESULTS AND CONCLUSIONS: On the basis of different results we divide our study group into three subgroups. The first (30%) present no mental disorder or at least reactive or transient disorder. The second subgroup (57%) show mild mental disorder. The third subgroup (13%) present severe mental disorder. In the first subgroup the adaptation to the illness was good, because of a normal personality, absence of past psychological disorders and good family relations. The second subgroup show a wider variability of symptomatology and 65% of these patients had some behaviour disorder in their past, which became more evident after diabetes onset. In the third subgroup diabetes seems to worsen pre-existing status of mental disorder. Metabolic control is better in the first subgroup than in the other two subgroups which do not differ too much one from the other. In conclusion, the better family relationship and personality history a patient had, the better adaptation to illness and metabolic control he had (1st Subgroup). The 2nd subgroup seems to be particularly at risk because it shows behaviour disorders and risk for future personality disorder. In the 3rd subgroup mental illness was already present even if not diagnosed at the onset of diabetes and needs to be treated anyway. As a matter of fact, it seems possible that the chronic illness points out and fixes perhaps pathological characteristics already present, which did not emerge until the traumatic onset of diabetes.

Neuropsychological development in a child with early-treated congenital hypothyroidism as compared with her unaffected identical twin.

OBJECTIVE: Neonatal screening for congenital hypothyroidism (CH) prevents the serious neuropsychological features of CH, but the question remains whether intelligence and motor skills of CH children treated early are completely normal. DESIGN: In this report we describe the rare case of two genetically identical twins, only one of whom was affected by CH due to thyroid agenesis. L-Thyroxine (9 microg/kg body weight/day) therapy was initiated at 27 days of age and was adequate throughout the follow-up. METHODS: Neuropsychological evaluation was performed on the twins in parallel from 3 months to 8 years of age. RESULTS: The CH twin (NB) did not show major neuromotor impairments but, compared with the unaffected twin (EB), she had a slight delay in postural/motor achievements and in language development that completely disappeared at 8 years of age. On standardised tests of intelligence, NB was indistinguishable from control children but, compared with her twin, she had lower IQ scores in most testing occasions up to 7 years of age (NB = 108 vs EB = 115). School achievements of NB did not significantly differ from those of her classmates but, compared with her twin, she scored worse in writing, mechanical reading, verbal memory, and possibly in arithmetic. CONCLUSIONS: Because the twins were genetically and phenotypically identical, were raised in the same environment, and received a similar education, it is concluded that hypothyroidism in utero and in the first neonatal month was responsible for the lower neuropsychological achievements of the CH twin. While foetal hypothyroidism is at present unavoidable, earlier diagnosis and initiation of treatment in neonates with CH are important and highly recommended.

[Missed diagnosis: a case of congenital hypothyroidism treated after three years]. / Una diagnosi mancata: un caso di ipotiroidismo congenito trattato a 3 anni.

Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Thyroid hormone deficiency in utero and in the first neonatal months is responsible for permanent damage. While foetal hypothyroidism is at present unavoidable, earlier diagnosis and initiation of treatment in neonates with CH is important and highly recommended. At the moment, the Italian screening program for CH allows diagnosis and treatment within the first month of life. In Italy, screening programs became obligatory only a short time ago. In some regions, they started a few years ago, whereas in others they have been carried out only in an irregular way and only a part of the population has been investigated. Therefore CH was diagnosed just on the basis of clinical signs, with a consequent delay in the initiation of substitutive therapy. We describe the case of a little girl with CH diagnosed when she was three years old. We report the results of this case follow-up study and we describe the features of her neuropsychological development to point out her improvement and permanent disorders. The little girl was clearly hypothyroid with delayed achievement at three, but with pharmacological treatment she showed a dramatic amelioration in growth, language, motor skills and cognitive performances.

[Congenital hypothyroidism. Comparison of neuropsychological development of monozygotic twins]. / Ipotiroidismo congenito. Confronto dello sviluppo neuropsichico di due gemelle monozigoti.

Early treated congenital hypothyroidism (CH) allows a normal neuropsychological development in many cases, but sometimes light neuromotor, linguistic, behavioural disturbances are described. In this work we compare two 9 year old twins to study the direct influence of CH in the neuropsychological development, eliminating variables linked to environment and the genetic aspects; one of the twins is affected by early treated congenital hypothyroidism, the other doesn't show any somatic, motor, linguistic, cognitive or behaviour affection. Our intention is to value the influence of CH in the neuropsychological development eliminating the variables linked to environment and to the genetic aspects. From this study emerges that both the somatic and neuropsychological development of the two twins are globally identical still, slight differences could possibly be pointed out during the evaluations, in the their neuropsychological performances. The psychomotor development of the hypothyroid twin resulted to be normal, but slower than the normal twin in any time. In the light of these results we can hypothesize that the differences in the global development are linked to the presence of congenital hypothyroidism although early treated in one of them, because the other variables linked to the genetic, environmental and socio-cultural factors are of no relevance whatsoever in this case. The two sisters are actually genetically and phenotypically identical, and both subject to the same familiar dynamics and receive the same education.

[Psychopathological risk in children with early onset of partial epilepsy]. / Rischio psicopatologico in bambini con epilessia parziale precoce.

In this study we compare the peculiarities of psychopathological risk in children with partial epilepsy versus children with chronic illness. Sixteen children affected by epilepsy with partial seizures, symptomatic or cryptogenetic (group A), are compared with 16 children affected by diabetes mellitus type 1 (group B) and with 16 early treated congenital hypothyroid children (group C). For the valuation we have used: 1) Rutter scales for parents; 2) questionnaire on maternal attitude towards epilepsy, modified for diabetes and hypothyroid children; 3) anamnestic interviews for epileptic patients; 4) individual observations. We have emphasized that: 1) the quality of life in children with epilepsy and their families is poorer compared to the ones of the other chronically ill children; 2) the attack is the most characterising factor of life quality of both group A and group B; 3) both group A and group B show an important anxiety for cognitive and behavioural disturbances; 4) in epilepsy families several factors contribute to the increased anxiety towards social life: occurrence of seizures, side effects of drugs, real or supposed underlying encephalopathy.

Mild iodine deficiency during fetal/neonatal life and neuropsychological impairment in Tuscany.

The neuropsychological performance of schoolchildren living in areas with present and past iodine deficiency in Tuscany was investigated. Children were submitted to: a) block design subtest of the Wechsler Intelligence Scale for Children-Revised (WISC-R) and a modified version of the WISC-R coding subtest which evaluate the general neuropsychological and cognitive performance, independently from familial cultural background; b) simple reaction time (RT) session which evaluates the efficiency of the whole information processing and nervous transmission mechanisms. Neuropsychological performance was tested in 107 children living in Borgo a Mozzano, an area of mild iodine deficiency (IDA) with a median urinary iodine excretion (UIE) of 64 micrograms/L (mean +/- SD: 80.1 +/- 57). One hundred and six sex and age-matched children living in Marina di Pisa, an iodine sufficient coastal village of Tuscany (ISA) with a median UIE of 142 micrograms/L (mean +/- SD: 173 +/- 95) were used as controls. Tests for neuropsychological performance were performed in 57 children living in the village of Vagli, an area with past iodine deficiency (PIDA): 30 children born before iodine prophylaxis (Group 1), when the median UIE was 32 micrograms/L (mean +/- SD: 47 +/- 22), 27 children born after the institution of iodine prophylaxis (Group 2), when the median UIE was 109 micrograms/L (mean +/- SD: 130 +/- 73). Sex and age-matched ISA-children were used as controls for each group. RTs were significantly delayed (p < 0.05) in IDA than in ISA children, while block design and coding subtests showed no significant difference.(ABSTRACT TRUNCATED AT 250 WORDS)

[The prevention of disorders due to congenital hypothyroidism: the experience of a neuropsychological follow-up]. / Prevenzione dei disturbi da ipotiroidismo congenito: un'esperienza di follow-up neuropsichico.

Early diagnosis and treatment of congenital hypothyroidism (CH) changed the prognosis for affected subjects. However it is still matter of controversy whether the neuropsychological development of early treated CH children is completely normal. In our study, even if the cognitive development is within the normal range, several disturbances were repeatedly observed in the neurological area, in language and in behavioural aspects. Severe neonatal hypothyroidism and low socio-cultural level of the family were risk factors for these disturbances; our results emphasize the relevance of a neuropsychological follow-up of early treated CH children.

Mild iodine deficiency in fetal/neonatal life and neuropsychological performances.

The effects of mild/moderate iodine deficiency during the fetal/neonatal life on neuropsychological performances are still poorly defined. In this research we analyzed some parameters of cognitive performance with sensitive psychometric tests in children living in an area with moderate iodine deficiency. Each subject was submitted to the following neuropsychological tests: 1) a reaction time (RT) session, 2) the block design subtest of the WISC-R, 3) the coding subtest of the WISC-R. No significant difference was found between children with mild iodine deficiency and controls, for block design and coding tests. On the other hand controls had significantly faster RTs. Our data show that exposure to mild iodine deficiency in fetal/neonatal life does not affect general cognitive performance but influences the velocity of motor response to visual stimuli, which may be due to an alteration of the efficiency of the information processing mechanism.

Evaluation of L-thyroxine replacement therapy in children with congenital hypothyroidism.

The outcome of L-thyroxine (L-T4) replacement therapy in children with congenital hypothyroidism (CH) remains to be completely evaluated. In this paper the overall pattern of response to L-T4 replacement therapy was studied in a group of 19 children with CH diagnosed by neonatal screening (10 with hypoplastic/aplastic thyroid disease, group H/A; 9 with gland ectopy, group E) who were followed-up for 60 +/- 27 months (mean +/- SD). With 1 exception serum T4 at diagnosis was greater than 2 micrograms/dl in children of group E and less than 2 micrograms/dl in those of group H/A. The initial dose of L-T4 (8-10 micrograms/kg BW/day) was modified in relation to age and weight in order to maintain serum TSH less than or equal to 5 microU/ml and FT3 in the normal range. A general inverse correlation between serum TSH and FT4 or FT3 concentrations was found, and the mean levels of serum FT4 and FT3 were significantly higher according to the following order of TSH results: low TSH (0-0.5 microU/ml) greater than normal (greater than 0.5-5 microU/ml) greater than elevated TSH (greater than 5 microU/ml). TSH levels less than or equal to 5 microU/ml were associated with FT4 values in the upper half of the normal range (54% of observations) or even higher (46%). Elevation of serum FT4 alone with FT3 values in the normal range did not result in clinical thyrotoxicosis, alteration of growth or premature craniosynostosis.(ABSTRACT TRUNCATED AT 250 WORDS)

Neuropsychological assessment in schoolchildren from an area of moderate iodine deficiency.

Neuropsychological assessment was carried out in schoolchildren from a montane area of Eastern Tuscany (Tiberina Valley). This area was found to be moderately iodine deficient (mean urinary iodine excretion: 39 micrograms/g creatinine), with a cumulative goiter prevalence of 51.9% in schoolchildren aged 6-14 yr (goiter prevalence in the control iodine-sufficient area: 5.6%). No significant differences in serum TT4, TT3, FT4I, TSH levels between the endemic and control areas were found, whereas serum thyroglobulin values were significantly higher in the iodine-deficient area (61 +/- 8 vs 17 +/- 1 ng/ml, p less than 0.01). No differences were found as to the height, body weight and pubertal development in the two areas. Neuropsychological assessment, performed in a representative sample of 50 schoolchildren from the endemic area and 50 schoolchildren from the control area, matched for age, sex and socioeconomical conditions, failed to show major differences between the two groups in the global neuropsychological performance and cognitive levels. However, minor but significant differences were noted in the information vocabulary and coding subtests, at least in children aged 8. Although familial cultural influences might play a role, it would appear that some marginal impairment, with particular regard to motor-perceptual functions, be present in areas of moderate iodine deficiency.