Social perceptions of the effects of Down syndrome facial surgery: a school-based study of ratings by normal adolescents

This study examines how 277 normal adolescents from five Israeli schools perceive the Down syndrome face before and after plastic surgery. A seven-point Likert scale was used to rate slides of normal and Down syndrome faces on four dimensions. Down syndrome patients were seen as less attractive, intelligent, good-hearted, and socially appealing than normal individuals. The slides were in nonapparent order and contained preoperative and 1-year postoperative views of eight plastic surgical patients. Paired t tests were used to examine operative changes, and all four dimensions showed overall postoperative improvement (p less than 0.001), but case-to-case variation was considerable. A linear relationship was found between change in appearance ratings and change in intelligence ratings. Findings suggest that when improvements in facial appearance are realized, peer normal social perceptions of the Down syndrome child may be enhanced. The relationship between school placement, intellectual level, and surgical decision making is discussed.     

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project

BACKGROUND: Maternal folic acid supplementation has been associated with a reduced risk for neural tube defects and may be associated with a reduced risk for congenital heart defects and other birth defects. Individuals with Down syndrome are at high risk for congenital heart defects and have been shown to have abnormal folate metabolism. METHODS: As part of the population‐based case‐control National Down Syndrome Project, 1011 mothers of infants with Down syndrome reported their use of supplements containing folic acid. These data were used to determine whether a lack of periconceptional maternal folic acid supplementation is associated with congenital heart defects in Down syndrome. We used logistic regression to test the relationship between maternal folic acid supplementation and the frequency of specific heart defects correcting for maternal race or ethnicity, proband sex, maternal use of alcohol and cigarettes, and maternal age at conception. RESULTS: Lack of maternal folic acid supplementation was more frequent among infants with Down syndrome and atrioventricular septal defects (odds ratio [OR], 1.69; 95% confidence interval [CI], 1.08–2.63; p = 0.011) or atrial septal defects (OR, 1.69; 95% CI, 1.11–2.58; p = 0.007) than among infants with Down syndrome and no heart defect. Preliminary evidence suggests that the patterns of association differ by race or ethnicity and sex of the proband. There was no statistically significant association with ventricular septal defects (OR, 1.26; 95% CI, 0.85–1.87; p = 0.124). CONCLUSIONS: Our results suggest that lack of maternal folic acid supplementation is associated with septal defects in infants with Down syndrome. Birth Defects Research (Part A), 2011. © 2011 Wiley‐Liss, Inc.     

Maternal fever and neural tube defects

It has been proposed that hyperthermia in the pregnant woman is associated with neural tube defects in her offspring. We analyzed retrospective interview data for a maternal history of probable febrile illness during the first trimester of pregnancy among mothers of infants with anencephaly or spina bifida. There were two control groups--mothers of infants with Down syndrome and mothers of infants with cleft lip or palate. With the Down syndrome group serving as controls, the incidence of febrile illness among mothers of all infants with neural tube defects was significantly elevated. With the cleft group as controls, the fever incidence was not significantly increased in the neural tube defect groups. When the combined cleft and Down syndrome controls were used, only mothers of the spina bifida group had an elevated fever incidence. Epidemiology data suggest an association of maternal fever during pregnancy with neural tube defects in the offspring.     

The effect of a pattern in palmar interdigital II on a-b ridge count in black and white Down syndrome cases and controls

An unconfirmed study by Fang (Ph.D. thesis, Univ. of London, 1950) in Britain showed that individuals with Down syndrome had lower total a-b ridge counts in palmar Interdigital area II (ID II) than a group of controls. This study compares 603 white Down syndrome cases and 93 black Down syndrome cases with 668 white and 402 black controls. Our results confirm those of Fang in that the Down syndrome cases in both racial groups had lower total a-b ridge counts than their respective controls. In addition, the black controls and Down syndrome cases had lower a-b ridge counts than their white counterparts. The mean a-b ridge count was significantly lower in individuals with a pattern in ID II compared to individuals without a pattern in ID II in both the Down syndrome and control groups. Some of the lower a-b ridge counts in the Down syndrome samples can be accounted for by the fact that there is an increased frequency of a pattern in ID II in Down syndrome cases. Both Down syndrome and normal individuals who had a pattern unilaterally had a lower than expected a-b ridge count on the contralateral hand that did not have a pattern. There was a tendency also for increased asymmetry in Down syndrome cases with a pattern in ID II.     

Prenatal diagnosis, pregnancy terminations and prevalence of Down syndrome in Atlanta

BACKGROUND: The impact of prenatal diagnosis on the live birth prevalence of Down syndrome (trisomy 21) has been described. This study examines the prevalence of Down syndrome before (1990-1993) and after inclusion of prenatally diagnosed cases (1994-1999) in a population-based registry of birth defects in metropolitan Atlanta. METHODS: We identified infants and spontaneous fetal deaths with Down syndrome (n = 387), and pregnancies electively terminated after a prenatal diagnosis of Down syndrome (n = 139) from 1990 to 1999 among residents of metropolitan Atlanta from a population-based registry of birth defects, the Metropolitan Atlanta Congenital Defects Program (MACDP). Only diagnoses of full trisomy 21 were included. Denominator information on live births was derived from State of Georgia birth certificate data. We compared the prevalence of Down syndrome by calendar period (1990-1993, 1994-1999), maternal age (<35 years, 35+ years), and race/ethnicity (White, Black, other), using chi-square and Fisher's exact tests. RESULTS: During the period when case ascertainment was based only on hospitals (1990-1993), the prevalence of Down syndrome was 8.4 per 10,000 live births when pregnancy terminations were excluded and 8.8 per 10,000 when terminations were included. When case ascertainment also included perinatal offices (1994-1999), the prevalence of Down syndrome was 10.1 per 10,000 when terminations were excluded and 15.3 when terminations were included. During 1990-1993, the prevalence of Down syndrome was 24.7 per 10,000 among offspring to women 35+ years of age compared to 6.8 per 10,000 among offspring to women <35 years of age (rate ratio [RR] = 3.65, 95% confidence interval [CI] = 2.53-5.28). During 1994-1999, the prevalence of Down syndrome was 55.3 per 10,000 among offspring to women 35+ years compared to 8.5 per 10,000 among offspring to women <35 years (RR = 6.55, 95% CI = 5.36-7.99). There was no statistically significant variation in the prevalence of Down syndrome by race/ethnicity within maternal age and period of birth strata. During 1994-1999, the proportion of cases that were electively terminated was greater for women 35+ years compared to women <35 years (RR = 5.10, 95% CI = 3.14-8.28), and lower for Blacks compared to Whites among women 35+ years of age (RR = 0.33, 95% CI = 0.16-0.66). CONCLUSIONS: In recent years, perinatal offices have become an important source of cases of Down syndrome for MACDP, contributing at least 34% of cases among pregnancies in women 35+ years of age. Variation in the prevalence of Down syndrome by race/ethnicity, before or after inclusion of cases ascertained from perinatal offices, was not statistically significant. Among Down syndrome pregnancies in mothers 35+ years we found a lower proportion of elective termination among Black women compared to White women. We suggest that future reports on the prevalence of Down syndrome by race/ethnicity take into account possible variations in the frequency of prenatal diagnosis or elective termination by race/ethnicity.     

Pericardial effusion due to hypothyroidism in Down syndrome: report of four cases

Pericardial effusion may be the first sign of congenital or acquired hypothyroidism and will completely resolve after thyroxin therapy. Hypothyroidism is more common in Down syndrome population than normal population. In this report we present four infants with Down syndrome who have pericardial effusion due to congenital hypothyroidism. All of these children with Down syndrome were admitted to our clinic with pericardial effusion. Pericardial effusion was completely resolved with thyroxin therapy without pericardiosentesis. Any child with Down syndrome who present with dyspnea and cardiomegaly should be suspected of having pericardial effusion due to hypothyroidism and echocardiography examination should be performed immediately. Pericardial effusion due to hypothyroidism will completely resolve with L-thyroxin therapy without pericardiosentesis. In conclusion, since a delayed diagnosis of hypothyroidism is likely and may favor the development of massive pericardial effusion and because of the difficult diagnosis of the hypothyroidism in Down syndrome, periodic follow-up of thyroid function tests are important.     

The first smile: spontaneous smiles in newborn Japanese macaques (<Emphasis Type="Italic">Macaca fuscata</Emphasis>)

Spontaneous smiles are facial movements that are characterized by lip corner raises that occur during irregular sleep or drowsiness without known external or internal causes. They are shown by human infants and infant chimpanzees. These smiles are considered to be the developmental origin of smiling and laughter. There are some case studies showing that spontaneous smiles occur in Japanese macaques. The goals of this study were to investigate whether newborn Japanese macaques show a considerable number of spontaneous smiles thus to examine the mechanism of them. Seven newborn Japanese macaques were observed in a room for an average of 44 min, and incidental sleeping situations were monitored twice. All seven participants showed spontaneous smiles at least once during the observation. They showed 8.29 spontaneous smiles in average (SD = 10.89; 58 smiles in total), all found in the state of REM sleep. Thirty-nine of the 58 smiles were produced on the left side of the mouth. These characteristics were similar to those of spontaneous smiles in human infants. This is the first evidence that macaques as well as hominoids show a considerable number of spontaneous smiles. These phenomena may facilitate the development of the zygomaticus major muscle, which is implicated in smiling-like facial expressions.     

Relationships between body movements and phase of respiratory cycle in newborns.

To determine the relationships between body movements and phase of the respiratory cycle, we performed polygraphic recordings during daytime sleep in 12 normal newborns: 6 premature infants of 31 to 36 weeks conceptional age and 6 full-term infants of 39-41 weeks conceptional age. Chin and eye movements, movements detected during sighs and body movements not related to sighs were analysed separately. We analysed 1838 chin and body movements with a clearly defined beginning. Data obtained were similar in both premature and full-term infants, without statistically significant differences when active and quiet sleep states were compared. We found that: (a) The 96 movements concomitant with sighs all started during inspiratory diaphragmatic bursts. (b) The 1270 body movements unrelated to sighs started predominantly (78.6% in premature infants, 81.3% in full-term infants) during expiration, after the end of diaphragmatic contraction (P less than 0.002). (c) The 472 chin movements and eye movements occurred randomly with respect to phases of respiration. In conclusion, our data show that central motor command level determines relationships between movement initiation and respiratory phase. They suggest inhibition of trunk and limb movements (under pyramidal control) during diaphragmatic contraction as early as 31 weeks CA. This inhibition is absent during sighs, which involve the inspiratory augmenting reflex, and does not apply to chin and eye movements, which are mediated by cranial nerves.     

Laughing,Smiling, and Talking: Relation to Sleeping and Social Context in Humans

The propabilities of laughing, smiling, or talking during a given hour and in various social environments were investigated by having undergraduate college students record their performance of these activitics in a log book during a one-week period. All three activities were least likely to occur during the hours immediately before bedtime and after waking and were most frequent in social situations. Smiles and laughs, like talking, were performed primarily during social encounters and were often part of verbal and nonverbal conversations. Because laughing and smiling are phasic social acts, they are of limited value as indices of ongoing (tonic) emotional state. The role of laughing, smiling, and talking in communication, the production of mood, and social bonding is considered.     

Ring chromosome 21 in healthy persons: different consequencies in females and in males

Summary A stable ring chromosome 21 was found in an azoospermic man with an otherwise normal phenotype. Meiotic studies in another known azoospermic male with r(21) had indicated that breakdown of spermatogenesis resulted from pairing failure of chromosome 21, followed by degenerative changes in the chromosomes, before the cells had completed the first meiotic division. While primary sterility was a constant feature in the three adult males, eight healthy females with r(21) were fertile. However, they were at risk for Down syndrome and spontaneous abortions.     

Effects of nasal CPAP therapy on respiratory and spontaneous arousals in infants with OSA.

Obstructive sleep apnea (OSA) in infants has been shown to resolve frequently without a cortical arousal. It is unknown whether infants do not require arousal to terminate apneas or whether this is a consequence of the OSA. We studied the apnea and arousal patterns of eight infants with OSA before and after treatment with nasal continuous positive airway pressure (CPAP). These infants were age matched to eight untreated infants with OSA and eight normal infants. Polysomnographic studies were performed on each infant. We found that the majority of central and obstructive apneas were terminated without arousal in all OSA infants. After several weeks of nasal CPAP treatment, the proportion of apneas terminating with an arousal during rapid-eye-movement sleep increased in treated infants compared with untreated infants. Spontaneous arousals during rapid-eye-movement sleep were reduced in all OSA infants; however, during CPAP treatment, the spontaneous arousals increased to the normal control level. We conclude that OSA in infants possibly depresses the arousal response and treatment of these infants with nasal CPAP partially reverses this depression.     

Interactions of mothers and nurses with premature infants.

The initial attachment of three mothers to three premature infants weighing less than 1500 g was assessed by observation of the mother''s behaviour during visits to her child in the hospital nursery. Interactions of mothers and infants were compared with those of nurses and infants. Premature infants, during a stay in hospital of approximately 7 weeks, have to adapt to up to 70 different nurses and receive generally little contact stimulation from them. Mothers change in their interactional behaviour over time but show persistent individual differences in amount of touching, smiling and talking to their infants. Follow-up investigation will determine if the maternal behaviour as demonstrated in the nursery is predictive of later parenting disorders.     

Transpalpebral browpexy

Transpalpebral browpexy could be performed as an adjuvant procedure to the upper blepharoplasty or as a separate procedure. It is done by separating interdigitalizing connections between the orbicularis and frontalis muscles, moving the orbicular part of the orbicularis muscle with overlying brow to the more cephalad position and again uniting both of these muscles with nonresorbable sutures in a new higher position. During the years 1990 to 1999, 55 patients (47 women and eight men) were operated on with this technique, which was partially developed by the author. Additional time required to achieve transpalpebral brow stabilization during standard blepharoplasty was approximately 30 minutes. Forty-three patients were followed, 38 of them for longer than 4 years. The elevation effect gradually decreased but persisted, with wide variations, between 1.5 and 7 more years. At the last follow-up examination, 36 of 43 patients had maintained lateral brows in the same position as before operation and sometimes even higher, which was appreciated by the patients. Complications were very few and they were correctable. Transpalpebral browpexy proved to be a useful addition to blepharoplasty and can be used for the minor adjustments after an open coronal or endoscopic brow lift. Particular indications included patients with lateral brow ptosis and discrete forehead wrinkles and balding men.     

Immunophenotype of a transient myeloproliferative disorder in a newborn with trisomy 21

Cytologic, immunologic, and cytogenetic studies were performed on the blast cells of a newborn with Down syndrome and transient myeloproliferative disease. This hematologic disorder is uncommon, and occurs primarily in infants with Down syndrome. This boy presented with a high white blood cell count and a high percentage of blast cells, without anemia or thrombocytopenia. Chromosome analysis showed a constitutional trisomy 21 without any other clonal abnormality. A three-color flow cytometric analysis was performed and revealed two different CD45 dim, CD34(+), CD117(+), CD56(+) immature subpopulations: the normal immature myeloid precursor and an immature blast cell population that expressed CD41, CD42, CD61, CD36, CD13, CD1a, and CD2. We postulate that this population could be the leukemic precursor involved in the acute megakaryoblastic leukemia frequently observed in children with Down syndrome.     

Face Gender Influences the Looking Preference for Smiling Expressions in 3.5-Month-Old Human Infants

Young infants are typically thought to prefer looking at smiling expressions. Although some accounts suggest that the preference is automatic and universal, we hypothesized that it is not rigid and may be influenced by other face dimensions, most notably the face’s gender. Infants are sensitive to the gender of faces; for example, 3-month-olds raised by female caregivers typically prefer female over male faces. We presented neutral versus smiling pairs of faces from the same female or male individuals to 3.5-month-old infants (n = 25), controlling for low-level cues. Infants looked longer to the smiling face when faces were female but longer to the neutral face when faces were male, i.e., there was an effect of face gender on the looking preference for smiling. The results indicate that a preference for smiling in 3.5-month-olds is limited to female faces, possibly reflective of differential experience with male and female faces.     

Molecular changes in fetal Down syndrome brain

Trisomy of human chromosome 21 is a major cause of mental retardation and other phenotypic abnormalities collectively known as Down syndrome. Down syndrome is associated with developmental failure followed by processes of neurodegeneration that are known to supervene later in life. Despite a widespread interest in Down syndrome, the cause of developmental failure is unclear. The brain of a child with Down syndrome develops differently from that of a normal one, although characteristic morphological differences have not been noted in prenatal life. On the other hand, a review of the existing literature indicates that there are a series of biochemical alterations occurring in fetal Down syndrome brain that could serve as substrate for morphological changes. We propose that these biochemical alterations represent and/or precede morphological changes. This review attempts to dissect these molecular changes and to explain how they may lead to mental retardation.     

Down syndrome rates and relaxed selection at older maternal ages.

Preferential survival in older mothers of fetuses with Down syndrome has been proposed as contributing to the maternal-age effect of this condition. If correct, this provocative hypothesis, which may be termed "relaxed selection," has major implications for approaches to prevention of Down syndrome live births in older women. Several predictions of this hypothesis are examined here by comparisons of parental ages among various populations. These revealed that: (1) mean maternal age of Down syndrome live births is slightly lower than that of Down syndrome spontaneous fetal deaths; (2) mean maternal age of those with mutant D/21 translocation Down syndrome is about the same as that of controls; (3) the ages of Down syndrome mothers who have Down syndrome live births is slightly lower than ages of Down syndrome mothers who have unaffected live births; and (4) in recent data on 47, +21 cases in which the extra chromosome 21 is of paternal origin, the mean maternal ages are 4-5 years lower than the maternal ages of cases of maternal origin (in contrast to earlier reports). All of these observations are contrary to the hypothesis that relaxed selection contributes significantly to the maternal-age association of Down syndrome. If there is any effect of relaxed selection, it is likely to be very weak and/or act primarily upon abortions that occur before recognition of pregnancy.     

Cigarette smoking and Down syndrome.

A matched case-control study of 100 mothers of Down syndrome children, 100 mothers of children with other defects (defect controls), and 100 mothers of children with no defects (normal controls) was carried out. All infants were born in upstate New York in 1980 and 1981. Matching was very close on maternal age for the normal controls but not for the defect controls. The risk ratios for the association of cigarette smoking around the time of conception with Down syndrome was 0.58 (90% confidence interval of 0.34-0.98) in the case-defect control comparison and 0.56 (90% confidence interval of 0.33-0.95) in the case-normal control comparison. Stratification by alcohol ingestion and maternal age did not abolish the negative trend to association. The results are contrary to that of an earlier study of others that found a positive association of older age and trisomy in spontaneous abortions. In fact, among mothers of Down syndrome cases over age 30 in this analysis, the risk ratio was lower than for younger mothers. (For case-normal control comparisons, the value was 0.39 [90% confidence interval of 0.17-0.87]). If not due to chance or confounding, the negative association in our data may be attributable to, among other factors, a selective effect of smoking upon survival or fertilizability of +21 gametes prior to conception or upon survival of +21 conceptuses after fertilization.     

Trisomy 21 Down syndrome

Summary The lymphocyte chromosomes of trisomy 21 Down syndrome patients and their parents in a random series of 374 families were analyzed, the objective being the identification of parental mosaicism. The numbers of parents in whom at least two trisomy 21 cells were detected were seven mothers and three fathers, a frequency of 2.7% of families. Confirmation of mosaicism was by identification of parental transmission of the extra chromosome to the progeny, by repeat chromosome analysis, and/or by the presence of more than one affected child. If to these are added six others in whom only one trisomic cell was detected, but with no other supporting evidence, the frequency could be as high as 4.3%. Differences in parental age at the birth of Down syndrome progeny may be accounted for by differences in frequencies of mosaicism in germ cells and somatic tissue. Mosaicism was found more frequently in the mothers than in the fathers, but more data are required for confirmation of a real difference.