Analysis of etiologic factors in cerebral palsy with severe mental retardation

Durkin, M.V.; Kaveggia, Elisabeth G.; Pendleton, E.; Neuhäuser, G; Opitz, JohnM.

doi:10.1007/bf00442637

Cited by 66 publications

(24 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is related to the observation that anastomoses may exist between placental circulations in MZ twins. This mechanism has certainly been implicated in cases of CP in an individual with a papyraceous or macerated co-twin [Durkin et al, 1976;Melnick, 1977;Moore et al, 1969;Yoshioka et al, 19791. However, the similarity of motor handicap in each concordant twin pair in this study may suggest a less random causal process.…”

Section: Discussionmentioning

confidence: 99%

Cerebral palsy in multiple births in Western Australia: Genetic aspects

1990

View full text Add to dashboard Cite

A study of cerebral palsy in multiple births was undertaken to test genetic involvement and assess the impact of the special conditions of pregnancy and parturition in these cases. Complete ascertainment of cerebral palsy in multiple gestations that occurred in Western Australia between 1956 and 1985 was obtained from the Western Australian Cerebral Palsy Register. There were 74 twins and 5 triplets. Data on sex, birth order, motor handicap, outcome in co-twins and triplets, zygosity, and pedigree information was obtained from the Register, hospital records, and, where possible, by interview of the parent(s) of the propositi. There was a significantly higher (P = 0.0026) concordance rate in MZ than in DZ twin pairs. However, pedigree studies showed no other relatives with a motor handicap similar to that of the propositi. This is consistent with a multifactorial cause in at least some of the cases. The sex ratio of affected twins was found to be 2.1 compared to 1.3 for singletons and all 5 affected triplets were boys. The trend of increasing sex ratio with increasing plurality was significant at the 1% level.

show abstract

Section: Discussionmentioning

confidence: 99%

Cerebral palsy in multiple births in Western Australia: Genetic aspects

1990

View full text Add to dashboard Cite

show abstract

“…The risk of DIC is probably higher if the DIU of twin 1 occurs during the third trimester. It has been cited as the possible cause of a high incidence of mental retarda tion and spasticity in surviving second twin [10,11], as well as possible neonatal death with renal and brain injury secondary to microthromboemboli [12,13], The calcula tion of this risk is confounded by the increas ing numbers of twin pregnancies reported on early ultrasound resulting in a singleton de livery with either no evidence of the other twin at delivery or a fetus papyraceous. The incidence of twin pregnancy diagnosed in the first trimester on ultrasound has been reported as twice that at delivery [3].…”

Section: Discussionmentioning

confidence: 99%

Fetal Blood Sampling in Twin Pregnancies

Cox¹,

Forestier²,

Capella-Pavlovsky³

et al. 1987

Fetal Diagn Ther

View full text Add to dashboard Cite

Twin pregnancies pose particular problems in both prenatal diagnosis and obstetric management. We present 19 twin pregnancies that underwent fetal blood sampling (FBS). The indications were mostly similar to those for singleton pregnancies, with both fetuses being sampled. There was one indication specific to twin pregnancies; disseminated intravascular coagulation in the retained twin after the death-in-utero (DIU) of the other. In 5 cases, only 1 twin was sampled; in 2 because the second twin was female in the diagnosis of an X-linked disorder; in 1 because of technical failure, and in 2 the other twin had predeceased. Eight pregnancies continued after the FBS delivering 2 live, healthy infants, though 5 were delivered before 37 weeks of gestation. In 7 cases there was a discordance in the diagnosis between the twins. In 3 of these cases the affected fetus underwent selective termination by air embolism; in 2 cases the pregnancies were continued and the affected twin not resuscitated; 1 pregnancy is still in progress, and 1 patient had a non-medically supervised termination of both twins in another country. Two patients miscarried within a week of the FBS. Two patients had only 1 living twin at the time of FBS; 1 had a second DIU a month after the FBS and the other a neonatal death at 11 days of age in an infant with severe porencephaly. FBS is technically feasible for similar indications as for singleton pregnancies though discordance in diagnosis raises specific management problems.

show abstract

“…Cerebral abnormalities such as microcephaly and cerebral atrophy (Fusi & Gordon, 1990;Ishimatsu et al, 1994), polymicrogyria (Baker et al, 1996;Bordarier & Robain, 1992;Larroche et al, 1994;Weig et al, 1995), hydranencephaly and multicystic encephalopathy (Hoyme et al, 1981;Jung et al, 1984) predominate in these reports. These cerebral impairments generally present clinically as cerebral palsy or learning disability (Durkin et al, 1976;Melnick, 1977;Pharoah & Adi, 2000. ).…”

Section: Mechanisms Of Fetal Damage In MC Twinsmentioning

confidence: 99%

Causal Hypothesis for Some Congenital Anomalies

Pharoah¹

2005

Twin Res Hum Genet

View full text Add to dashboard Cite

Congenital anomalies are a major cause of fetal and neonatal death and of childhood morbidity. Chromosomal and other genetic abnormalities, environmental teratogens and some nutritional deficiencies account for some congenital anomalies but the majority are of unknown etiology. The hypothesis is here proposed that a significant proportion of congenital anomalies and cerebral palsy of unknown etiology are attributable to a monozygotic multiple conception with monochorionic placentation and that these anomalies, even in singletons, may be explained by early, unrecognized or unrecorded loss of one conceptus in a monochorionic monozygotic conception. The pathological mechanism is hemodynamic instability with episodes of acute feto–fetal transfusion that produce ischemic organ impairment in either or both twins. The resultant clinical abnormality will depend on range of severity (fetal death, infant death, congenital anomaly, normal infant), site or combination of sites (which organ[s] present[s] with the congenital anomaly) and timing (early, middle or late in gestation as shown by variation in brain pathology that is observed).

show abstract

Analysis of etiologic factors in cerebral palsy with severe mental retardation

Cited by 66 publications

References 13 publications

Cerebral palsy in multiple births in Western Australia: Genetic aspects

Cerebral palsy in multiple births in Western Australia: Genetic aspects

Fetal Blood Sampling in Twin Pregnancies

Causal Hypothesis for Some Congenital Anomalies

Contact Info

Product

Resources

About