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.

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.

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.