Congenital Hypothyroidism
Conditions
Keywords
quality of life, congenital hypothyroidism, treatment, newborn screening, outcome
Brief summary
The primary objective of this observational study is the evaluation of the quality of life and long-term outccome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening receiving replacement treatment with levothyroxine. The secondary objective is to relate the results to the form of hypothyroidism, the initial dose of L-T4, treatment adherence and genetics
Detailed description
The study protocol will be performed in 3 different phases: Step1: A) Enrollment of patients meeting the following criteria: * diagnosis of congenital hypothyroidism through neonatal screening adequately treated with L-T4 * confirmation of the diagnosis of hypothyroidism upon re-evaluation of the diagnosis * age 16-21 years at the time of enrollment B) Information interview on the study and signing of informed consent by the patient and/or parent/guardian C) Retrospective collection of the following parameters at diagnosis: * Values of TSH, FT4 at diagnosis, initial dose of L-T4 * Thyroid ultrasound and scintigraphy reports * Genetic investigation report if available D) Retrospective collection for each year of follow-up of: weight, height, TSH, FT4 and L-T4 dose Step 2: A) Clinical evaluation (Weight, Height, BMI, Waist and hip circumference, blood pressure) B) Evaluation of body composition by performing bioimpedance analysis C) Evaluation of quality of life through administration of the SF36 test D) Evaluation of cognitive abilities through administration of the WAIS IV test E) Evaluation of any psychopathological conditions through the SCL-90 psychopathological screening questionnaire F) For patients up to 18 years of age: CBCL questionnaire administered to parents to describe the patient's behaviour Step 3: Data collection and analysis of results
Interventions
DIAGNOSTIC_TESTbioimpedance analysis
Assessment of body composition by performing bioimpedance analysis
DIAGNOSTIC_TESTCBCL questionnaire
For patients up to 18 years of age: CBCL questionnaire to be administered to parents to describe the patient's behavior
DIAGNOSTIC_TESTSF36 test
Assessment of quality of life by administering the SF36 test
DIAGNOSTIC_TESTWAIS IV test
Assessment of cognitive abilities by administering the WAIS IV test
DIAGNOSTIC_TESTSCL-90 psychopathological screening questionnaire
Assessment of any psychopathological conditions by means of the SCL-90 psychopathological screening questionnaire
Sponsors
Federico II University
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
16 Years to 21 Years
Healthy volunteers
No
Inclusion criteria
* Diagnosis of congenital hypothyroidism by neonatal screening * Start of L-T4 therapy within the first month of life * Confirmation of hypothyroidism condition upon reassessment of diagnosis
Exclusion criteria
* other chronic diseases and/or genetic syndromes * family history of neuropsychiatric pathology * familial dyslipidemia
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Behovioral outcome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment. | evaluation of the long term outcomes at the time of enrolment | Administration of the CBCL questionnaire to parents of patients up to 18 years of age to describe the patient's behavior |
| Quality of life of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment. | evaluation of the long term outcomes at the time of enrolment | Administration of the SF36 questionnaire for the evaluation of quality of life in transition-age children with adequately treated congenital hypothyroidism |
| Auxological outcome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment. | evaluation of the long term outcomes at the time of enrolment | weigh SDS, height SDS and BMI SDS assessment in transition-age children with adequately treated congenital hypothyroidism |
| Intellectual outcome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment. | evaluation of the long term outcomes at the time of enrolment | Assessment of cognitive abilities through the administration of the WAIS IV |
| Psychopathological condition of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment. | evaluation of the long term outcomes at the time of enrolment | Assessment of psychopathological conditions through the SCL-90 questionnaire |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Correlation between intellectual outcome and type of congenital hypothyroidism | at time of enrollment | Correlation between intellectual outcome and type of congenital hypothyroidism with Pearson's test |
| Correlation between psychopathological evaluation and type of congenital hypothyroidism | at time of enrollment | Correlation between psychopathological evaluation and type of congenital hypothyroidism with Pearson's test |
| Correlation between behovioral evaluation and type of congenital hypothyroidism | at time of enrollment | Correlation between behovioral evaluation and type of congenital hypothyroidism with Pearson's test |
| Correlation between quality of life and type of congenital hypothyroidism | at time of enrollment | Correlation between quality of life and type of congenital hypothyroidism with Pearson's test |
Countries
Italy
Outcome results
None listed