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Ultrasound screening of neonatal hips
ELSEVTER
Early
Human
Development
09 (1997)
73-77
Abstracts Results of neonatal screening of congenital hypothyroidism in Bulgaria for a period of 3 years. L. Peneva, I. Stoeva, R. Grigorova, B. Vasileva, Universitet.ska Detska Bolnitsa, Meditsinski
Universitet,
Soja, BGR.
Results are being submitted after a 3-year period of screening in Bulgaria ( 1993- 1995). Organization of neonatal screening for congenital hypothyroidism (NSCH) for early detection of congenital hypothyroidism (CH) is using the same system as for congenital phenylketonuria in newborns, i.e. the S.C. PKU-screening by collecting a dry drop of filter paper from neonates in all maternity institutions throughout the country. Estimation of TSH in a dry drop of blood is being achieved by the immunofluorimetric method of Delphia with a sensitivity from 1.0 up to 250.0 mIU/l for neonatal TSH. During 3 years of investigation a total of 65 children with CH have been detected (44 girls and 21 boys). This points at a prevalence of CH ol 1:2692 for Bulgaria. This is similar to that in other European countries. Repeated investigations, S.C.recall rate decreasedfrom 1.86% during the first year down to 0.29% during the third year. Percentagecoverage rose from 65% during the first year up to 82% for the following 2 years. In 11 children with a present S.C. temporary hypothyroidism is being assumedto be due to a possiblecause as iodine deficiency, loading with iodine or presenceof different antithyroid antibodies in the mother. A late diagnosedCH was basedon clinical features. Treatment starts early at an average of the 22nd day of life with 50 mcg L-thyroxin. Resultsare very good. High dosageot L-thyroxine ensuresquick normalization of serum hormonal levels and with this a good physical and mental development. It is being pointed out that the task of NSCH is the early optimal treatment of congenital hypothyroidism in order to secure ;j normal development without neurologic complications.
Ultrasound
screening of neonatal hips. A. Falliner. H.J. Hahne. J. Hassenpffug.
Michaelisstrusse I, D-24 105 Kiel, DEU. Problem: Clinical and ultrasound data of neonatal hips were analysed to answer the question whether a neonatal screening is necessaryor not. Method: Children born between I. 1.I991 and 3 1.3.1995 were examined clinically and by ultrasound. The data were analysed by SPSS/PC. Results: 5069 children with 10 138 hips were examined. 85% were mature (type I), 14% were physiologically immature (type Ha) and 1.2% were pathological (IIc, D, IIIa). The comparison shows,that from 1I9 hips 037X-3782/97/$.17.00 I-‘// s017Y-~7x2(97)01877-x
0 1997 Elsevier
Science
Ireland
Ltd. All rights reserved
Abstracts
14
with pathological ultrasound findings only 44 (37%) had positive clinical findings. A screening that is restricted to children with positive risk factors, positive family history or breech position) would result in half of the newborns with pathological hips not being treated in time. Outcomes
of neonatal
for congenital hypothyroidism. M. Dattani, Endocrinology Ctr., G. Ormond St. Hosp. Sick 3JH, GBR.
screening
C.G.D. Brook, London Pediatric Children, London WClN
The introduction of screening for congenital hypothyroidism has led to a marked improvement in neurodevelopmental outcome that has largely been attributed to the introduction of early treatment in the form of thyroxine. However, recent research has shown that the effect of hypothyroidism on the developing brain can result in specific developmental defects regardless of the early commencement of treatment. These defects consist predominantly of defective motor skills, clumsiness, learning difficulties, and behavior problems. Genetic testing for cancer
Codori,
in children:
short-term
psychological
G.M. Petersen, P.A. Boyd, J. Brandt, F.M. Giardiello,
Hospital, Meyer 218, 600 N Wolfe St, Baltimore,
MD 21287-7218,
effect. A.-M. Johns Hopkins USA.
Objective: To study the psychological effect of genetic testing in children. Design: We evaluated the psychological effect of predictive genetic testing through surveys of children at risk for familial adenomatous polyposis. Their psychological state was assessed before testing and 3 months later. Setting: A research clinic. Participants: A volunteer sample of 41 children, aged 6-16 years, and their parents. Main Outcome Measures: Self-report inventories of depression, anxiety, behavior problems, and competence. Results: Nineteen children were found to have a gene mutation (mutation-positive) and 22 did not (mutation-negative). Their depression, anxiety, and behavior problem and competence scores remained in the normal range after testing. Also, parents’ depression scores remained within normal limits at follow-up. There were subclinical changes, however. Mutation-positive children with affected mothers had significantly higher depression scores at follow-up. Also, regardless of test results, children with affected mothers had significantly increased anxiety scores after testing. In families with mutation-positive and mutation-negative children, familial adenomatous polyposis-unaffected parents experienced significantly increased depressive symptoms at follow-up. Conclusions: Predictive testing of children at risk for familial adenomatous polyposis did not lead to clinically significant psychological symptoms in tested children or their parents. However, it is premature to conclude that long-term follow-up will be equally favorable. Additional study will be needed to determine the families’ understanding of the genetic information and the effect of the information on familial relationships. Clinical impact of transcutaneous bilirubinometry as an adjunctive screen for hyperbilirubinemia. J. Dai, J. Krahn, D.M. Parry, Department of Clinical Biochemistry, St. Boniface General Hospital, Winnipeg, Man. R2H 2A6, CAN.
Early
Human
Development
09 (1997)
73-77
Abstracts Results of neonatal screening of congenital hypothyroidism in Bulgaria for a period of 3 years. L. Peneva, I. Stoeva, R. Grigorova, B. Vasileva, Universitet.ska Detska Bolnitsa, Meditsinski
Universitet,
Soja, BGR.
Results are being submitted after a 3-year period of screening in Bulgaria ( 1993- 1995). Organization of neonatal screening for congenital hypothyroidism (NSCH) for early detection of congenital hypothyroidism (CH) is using the same system as for congenital phenylketonuria in newborns, i.e. the S.C. PKU-screening by collecting a dry drop of filter paper from neonates in all maternity institutions throughout the country. Estimation of TSH in a dry drop of blood is being achieved by the immunofluorimetric method of Delphia with a sensitivity from 1.0 up to 250.0 mIU/l for neonatal TSH. During 3 years of investigation a total of 65 children with CH have been detected (44 girls and 21 boys). This points at a prevalence of CH ol 1:2692 for Bulgaria. This is similar to that in other European countries. Repeated investigations, S.C.recall rate decreasedfrom 1.86% during the first year down to 0.29% during the third year. Percentagecoverage rose from 65% during the first year up to 82% for the following 2 years. In 11 children with a present S.C. temporary hypothyroidism is being assumedto be due to a possiblecause as iodine deficiency, loading with iodine or presenceof different antithyroid antibodies in the mother. A late diagnosedCH was basedon clinical features. Treatment starts early at an average of the 22nd day of life with 50 mcg L-thyroxin. Resultsare very good. High dosageot L-thyroxine ensuresquick normalization of serum hormonal levels and with this a good physical and mental development. It is being pointed out that the task of NSCH is the early optimal treatment of congenital hypothyroidism in order to secure ;j normal development without neurologic complications.
Ultrasound
screening of neonatal hips. A. Falliner. H.J. Hahne. J. Hassenpffug.
Michaelisstrusse I, D-24 105 Kiel, DEU. Problem: Clinical and ultrasound data of neonatal hips were analysed to answer the question whether a neonatal screening is necessaryor not. Method: Children born between I. 1.I991 and 3 1.3.1995 were examined clinically and by ultrasound. The data were analysed by SPSS/PC. Results: 5069 children with 10 138 hips were examined. 85% were mature (type I), 14% were physiologically immature (type Ha) and 1.2% were pathological (IIc, D, IIIa). The comparison shows,that from 1I9 hips 037X-3782/97/$.17.00 I-‘// s017Y-~7x2(97)01877-x
0 1997 Elsevier
Science
Ireland
Ltd. All rights reserved
Abstracts
14
with pathological ultrasound findings only 44 (37%) had positive clinical findings. A screening that is restricted to children with positive risk factors, positive family history or breech position) would result in half of the newborns with pathological hips not being treated in time. Outcomes
of neonatal
for congenital hypothyroidism. M. Dattani, Endocrinology Ctr., G. Ormond St. Hosp. Sick 3JH, GBR.
screening
C.G.D. Brook, London Pediatric Children, London WClN
The introduction of screening for congenital hypothyroidism has led to a marked improvement in neurodevelopmental outcome that has largely been attributed to the introduction of early treatment in the form of thyroxine. However, recent research has shown that the effect of hypothyroidism on the developing brain can result in specific developmental defects regardless of the early commencement of treatment. These defects consist predominantly of defective motor skills, clumsiness, learning difficulties, and behavior problems. Genetic testing for cancer
Codori,
in children:
short-term
psychological
G.M. Petersen, P.A. Boyd, J. Brandt, F.M. Giardiello,
Hospital, Meyer 218, 600 N Wolfe St, Baltimore,
MD 21287-7218,
effect. A.-M. Johns Hopkins USA.
Objective: To study the psychological effect of genetic testing in children. Design: We evaluated the psychological effect of predictive genetic testing through surveys of children at risk for familial adenomatous polyposis. Their psychological state was assessed before testing and 3 months later. Setting: A research clinic. Participants: A volunteer sample of 41 children, aged 6-16 years, and their parents. Main Outcome Measures: Self-report inventories of depression, anxiety, behavior problems, and competence. Results: Nineteen children were found to have a gene mutation (mutation-positive) and 22 did not (mutation-negative). Their depression, anxiety, and behavior problem and competence scores remained in the normal range after testing. Also, parents’ depression scores remained within normal limits at follow-up. There were subclinical changes, however. Mutation-positive children with affected mothers had significantly higher depression scores at follow-up. Also, regardless of test results, children with affected mothers had significantly increased anxiety scores after testing. In families with mutation-positive and mutation-negative children, familial adenomatous polyposis-unaffected parents experienced significantly increased depressive symptoms at follow-up. Conclusions: Predictive testing of children at risk for familial adenomatous polyposis did not lead to clinically significant psychological symptoms in tested children or their parents. However, it is premature to conclude that long-term follow-up will be equally favorable. Additional study will be needed to determine the families’ understanding of the genetic information and the effect of the information on familial relationships. Clinical impact of transcutaneous bilirubinometry as an adjunctive screen for hyperbilirubinemia. J. Dai, J. Krahn, D.M. Parry, Department of Clinical Biochemistry, St. Boniface General Hospital, Winnipeg, Man. R2H 2A6, CAN.