Children With Down Syndrome Can Learn

Teaching Down Syndrome

Although Home is Where the Smart Is is packed with information in its 104 pages, it is not an exhaustive work. It's a consideration of the basics of teaching your child with Down syndrome, starting from birth through the foundational elementary years. What's inside: Why Down syndrome is Not mental retardation .page 14 How you really can reat Down syndrome. . page 17 How you can save frustration and diapers with an old method of potty training . pg 49 How you can keep that tongue from sticking out . page 38, 69 The fastest way to teach your child to read . page 60 Developmental milestones, word lists, websites and resources . page 90 And, if you must be involved with the public school system, basic guidelines for Individual Educational Plans (Ieps) and 15 snippy questions to ask educators.

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Prevention of Down syndrome, 1979-1999, in Strasbourg, France, by prenatal diagnosis and termination of pregnancy 1 .The data are representative for all industrialized countries where population screening and prenatal diagnosis are operational for more than two decades, resulting in tremendous reduction of Down syndrome prevalence (orange curve) compared with the expected prevalence in the absence of preventive measures (black curve), which is achieved by the increase of the number of pregnancy terminations (yellow curve). Figure 1.1. Prevention of Down syndrome, 1979-1999, in Strasbourg, France, by prenatal diagnosis and termination of pregnancy 1 .The data are representative for all industrialized countries where population screening and prenatal diagnosis are operational for more than two decades, resulting in tremendous reduction of Down syndrome prevalence (orange curve) compared with the expected prevalence in the absence of preventive measures (black curve), which...

Down Syndrome

Down syndrome (mongolism) is another example characterized by several symptoms, including accelerated aging and premature death, and is due to trisomy at chromosome 21. The incidence of the syndrome is greatest among children born from mothers 40 years of age and older, and the genetic abnormality has, therefore, been related to aging processes involving the oocytes (Chapter 10). Although in 20 to 30 of cases, the extra chromosome is contributed by the father, paternal age does not seem to have any significant effect on the incidence of the syndrome. Individuals affected by Down syndrome may present somatic malformations, but the major deficit is represented by severe mental disability. Affected subjects who live to reach 30 years of age and longer present many signs of accelerated aging, including Alzheimer disease (AD) superimposed on the mental retardation (88) (Chapter 7). Animal models have also been proposed for the study of Down syndrome. The mouse is the animal of choice, for...

Primary Prevention of Genetic Disorders and Place of Preimplantation Genetic Diagnosis

The impact of the community-based preventive approaches is obvious from the Down syndrome prevention program in the majority of industrialised countries of Europe and the United States. The programs are based on the introduction of prenatal maternal serum screening for all pregnant women to detect pregnancies at increased risk, followed by prenatal diagnosis and selective pregnancy termination, combined with prenatal diagnosis offered to all women of advanced maternal age, which have resulted in the reduction of the birth prevalence of Down syndrome at least by half. However, this led to an increasing number

Screening Versus Diagnostic Tests

The prevalence of congenital abnormalities, from major to minor, is in the region of 2 (Baird et ul., 1988). Prenatal diagnosis of congenital birth defects or genetic disorders is based on screening a low-risk population. In the past, for example, standard screening policies to detect Down's syndrome (trisomy 21) relied on the maternal age-related risk (Hook, 1981) and to offer fetal karyotyping to women over the age of 35 years. However, this failed to reduce the incidence significantly as the majority of affected babies are born to women under the age of 35 (Walker & Howard, 1986). This stimulated the development of screening tests to identify high-risk pregnancies with increasing sensitivity. Screening tools that are currently used in antenatal care are shown in Table 3.1. In prenatal diagnosis of Down's syndrome, the maternal age-related risk may be altered by results of maternal serum screening or nuchal translucency measurements (see below). Alternatively, ultrasound screening...

The Developmentally Disabled Population

Between 200,000 and 500,000 people in the United States over the age of sixty may have some form of developmental disability. Some of these individuals present special problems as they age. Those with epilepsy appear to be at greater risk for osteoporosis, while those with Down syndrome seem to begin the aging process earlier than others.

Disease As A Tool For The Study Of Aging

Sporadic cases of syndromes having multiple characteristics of premature (early-onset) or accelerated (rapid-progression) aging occur in humans (85,86). It is unclear how far any of these syndromes may be regarded as a genuine acceleration of timing mechanisms that determine senescence. They are apparently pleoitropic genetic defects, and when one of the major features is accelerated aging, they are designated as progeria. One such example is Wermer's Syndrome (WS). When accelerated aging is associated with other prevalent defects, such as mental retardation and short stature, they are called progeria-like or progeroid or segmental syndromes. One example is Down syndrome (85).

Fetal Study US andor MR

If the stomach is too big in the third trimester on two consecutive studies, the main cause is duodenal atresia with the typical double-bubble appearance. A total of 30 of these patients will have trisomy 21 (Buonomo et al. 1998). These patients also have an increased risk of an esophageal atresia, in which case they will not always present with a double-bubble appearance due to the obstruction of the GI tract more proximally, unless they have an associated

Prevention and Treatment

Newborn screening programs can detect certain disorders that will lead to mental retardation, including PKU, congenital hypothyroidism, galacto-semia, maple syrup urine disease, and other inherited metabolic disorders. Prenatal testing (such as amniocentesis and chorionic villi sampling) can be used to detect chromosomal disorders, including Down syndrome and sev

Practical Preimplantation Genetic Diagnosis

Meiosis I error resulting in trisomy21. PB1 and PB2 were simultaneously removed on day 1 atthe pronuclear stage of development following fertilization assessment. (4) FISH image of PB1 after a 3-hr hybridization with MultiVysion PB panel probe for chromosomes 13 (red), 16 (aqua), 18 (violet blue), 21 (green), and 22 (gold), showing one chromosome 21 signal (white arrow) instead of two, indicating an extra chromatid 21 was retained in the oocyte. (B) FISH image of PB2 showing a normal number of signals for each of the chromosomes tested. Information obtained by the PB testing indicates trisomy 21 is present in the embryo due to the chromatid error in meiosis I. (C) FISH image of metaphase chromosomes obtained after embryo biopsy and fixation on day 3, confirming the presence of three chromosomes 21 (white arrows). Some double dot (paired) signals are seen representing each chromatid of these metaphase stage chromosomes. (D) FISH image of an interphase nucleus isolated from a...

The Genetic Connection

Other observations suggest an association with elevated homocysteine levels in some AD patients, perhaps related to a decreased level of folate (Chapter 15), prior viral infections, exposure to chemicals, or aluminum, or any correlation with neoplasms. However, still other data associate AD with head trauma, cardiovascular disease, and a less convincing association with thyroid disease (Chapter 12). There is a definite association of AD with Down syndrome. The cloning of the gene encoding the Ab-peptide and its mapping to chromosome 21 have strengthened the amyloid connection hypothesis. Chromosome 21 is altered in Down syndrome individuals with this trisomy are severely mentally impaired and develop clinical signs of AD at an early age (Chapter 3). The association of mental disability with AD pathology is strong evidence that overproduction of Ab is the root cause of the neural degeneration underlying dementia (134,135). Mutation in the APP and the onset of early-onset AD in some...

Screening For Agerelated Aneuploidy In Couples Undergoing Routine

PGD using five-colour FISH (X, Y, 13, 18, 21) has also been carried out for 14 couples (mean maternal age 39.2 years), resulting in four pregnancies, one of which spontaneously aborted. Only 22 of embryos in total were diagnosed normal, although an additional 25 gave no result. In common with the cycles described above, when few embryos diagnosed as normal were available, embryos were often considered for transfer which had given no result or had been diagnosed as monosomic (Smith et al., 1998). The logic behind transferring embryos scored as monosomic is that the FISH error rate is higher than the risk of a monosomic embryo implanting and establishing a pregnancy (Munne et al., 1998e). Recent work has concentrated on increasing the number of chromosomes which can be screened for in these cases, to include other chromosomes frequently associated with pregnancy wastage, although FISH efficiency is necessarily decreased as more probes are added. Probes for chromosomes X, Y, 13, 16, 18...

Robertsonian Translocations

Robertsonian translocations involve breakage and fusion of two acrocentric chromosomes (i.e., chromosomes 13, 14, 15, 21, and 22) near their centromeres, with resulting loss of their short arms. The short arms of the acrocentric chromosomes contain genes that encode ribosomal RNAs, and because these genes are duplicated on several different chromosomes, the loss of these genes in a Robertsonian translocation is not deleterious. Among the more common Robertsonian translocations are 13q14q and 14q21q. Subjects with a Robertsonian translocation that involves chromosome 21 are at increased risk of having an offspring with Down syndrome, and this effect is independent of maternal age. Approximately 4 of Down syndrome patients have a Robertson-ian translocation. Identification of a Robertsonian translocation in a patient with Down syndrome should prompt a cytogenetic evaluation of the parents and genetic counseling to discuss the recurrence risks.

Diagnostic And Strategic Considerations

Blastocyst Biopsy

An additional problem is that TE cells may have diverged genetically from the ICM as, in approximately 2 of conceptions, confined placental mosaicism (CPM) is observed (Kalousek and Vekemans, 1996) in which the chromosome status of the embryo is different from the placenta. It may be a mechanism of early development that abnormal cells are preferentially allocated to the trophectoderm (James & West, 1994). Preliminary data suggest that the level of mosaicism in the human blastocyst is lower than that in cleavage-stage embryos (Ruangvutilert et al., 2000) and, where present, often takes the form of polyploidy in the trophectodermal lineage (Evsikov & Verlinsky, 1998). For PGD analyses using FISH, if enough chromosomes are analysed then any underlying abnormality (such as trisomy 21) may be recognized within the polyploidy (Kuo & Handyside, personal communication). Similarly, for PCR-based diagnoses the presence of multiple copies of each chromosome in polyploid cells should pose few...

First Trimester Ultrasonography

An increased nuchal translucency (NT) thickness in the first trimester was reported to have an association with aneuploidy by Bronshtein et al. (1989) and with Down's syndrome by Szabo and Gellen (1990). The NT is the gestation dependent thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine of the fetus (normal NT measurement

Malemediated Teratogenesis

Malformations or the development of abnormal offspring. This is similar to the situation in which inherited mutations or chromosomal aberrations lead to the birth of abnormal offspring, such as occur in Down's syndrome, for example, where an extra chromosome occurs (Trisomy 21). Although this has been shown to occur in experimental animals after exposure of males to foreign compounds such as cyclophosphamide, there is only inconclusive evidence that this occurs in man. Thus, studies of

Interplay of Nature Versus Nurture

Organic lamp theory has demonstrated the powerful interplay between biological factors and the way in which children are raised. An example is seen in the treatment of Down syndrome, a chromosomal condition that results in mental retardation. The disorder occurs when there are three chromosomes, rather than two, at the twenty-first locus. Clearly, this is a biological condition, and it was believed to be relatively impervious to interventions that come from the environment. It has now been shown, however, that children afflicted with Down syndrome develop much higher intelligence when raised in an intellectually stimulating environment, as opposed to the more sterile, clinical, determined environments typically employed in the past. The child's intellect is not entirely determined by biology it is possible to ameliorate the biological effects of the syndrome by means of environmental intervention. This type of complex interplay of hereditary and environmental factors is the hallmark...

Genetic Causes

Down syndrome was first described by John Langdon Down in 1866, and although heredity was suspected in its etiology, it was not until 1959 that it was discovered that Down syndrome patients had one extra chromosome, for a total of forty-seven instead of the normal forty-six. Down syndrome occurs at a frequency of about one in one thousand births and is the single most prevalent cause of mental retardation. The great majority of Down syndrome patients have three chromosomes number 21 instead of two (a condition called trisomy 21). The physical features associated with Down syndrome are easily recognizable short stature, a short neck with excessive loose skin, thick lips, epicanthal folds of the eye, malformed ears, poor muscle tone, and a flattened facial profile. Major physical problems include heart and kidney defects, deafness, and gastrointestinal blockages. Developmental milestones are delayed, and mental retardation is common. Intelligence varies...


Nondisjunction is the usual mechanism underlying common chromosomal aneuploidy syndromes at birth trisomy 21, trisomy 13, and trisomy 18. Other aneuploid karyotypes are found in spontaneous abortions, but the pattern of involved chromosomes in aneu-ploidy in spontaneous abortions is very different from that observed in live-born babies. For example, the most common trisomy seen in spontaneous abortions is trisomy 16, but this is lethal in utero and therefore is not seen in full-term newborns.

Polar Bodies

There are several significant disadvantages to this approach. For PGD in general, polar body biopsy cannot help families when the genetic mutation originates from the paternal parent or as a consequence of postzygotic non-disjunction. For example, the origin of conceptions with the sex chromosomal aberrations 45,X and 47,XXY is paternal in 17 and 46 of the cases, respectively (Delhanty & Handyside, 1995). Similarly, for the trisomies 21 and 18, 5 and 13 ) originate postzygotically (Delhanty & Handyside, 1995). Furthermore, non-disjunction during the second meiotic division of oogenesis is a significant factor in the aetiology of numerical aberrations for both sex and autosomal chromosomes. For example, non-disjunction during the second meiotic division of oogenesis accounts for 19 ) and 67 of trisomy 21 and trisomy 18, respectively (Delhanty & Handyside, 1995). For this reason, both the first and second polar bodies must be analysed for their chromosome complements. This requires an...

Prospective Parents

A couple who have PGD for cystic fibrosis because they are both carriers. While none of the six embryos are homozygous for CF, one of them is trisomy 21. The parents do not want this one discarded and want it to be included among those that are transferred or frozen. They describe themselves as comfortable with the prospect that a child with Down's syndrome can still have a good quality of life.


Embryos could be affected if they also carried the alternative CF mutation. The reason for these misdiagnoses is probably due to ADO or the inadvertent incorporation of contaminating sperm or cumulus cells. A third possibility that now seems equally likely is chromosomal mosaicism in normally developing human embryos particularly of the diploid haploid type. In 1998, two further PCR misdiagnoses were reported the misdiagnosis of 3-thalassaemia (Kuliev et al., 1998) and myotonic dystrophy (Sermon et al., 1998a). The proposed reason for these misdiagnoses was that the couple had unprotected sex and an unaspirated follicle released an oocyte which became fertilized in vivo (Kuliev et al., 1988). However, another explanation is maternal cumulus cell contamination. Efforts are made to remove all cumulus cells from the oocyte before embryo biopsy, but these cells are very small and it is conceivable that stray cumulus cells can remain attached to the zona only to become dislodged during...

Gonadal Mosaicism

PGD can be used in these cases to screen embryos for the specific trisomy as illustrated by one of our cases, a chromosomally normal couple who had had three Down's Syndrome conceptuses (of maternal origin) and one normal child (Conn et al., 1999) (Figure 12.8 see Plate VII). Two PGD cycles carried out to exclude trisomic embryos using dual colour FISH with two chromosome 21 specific YAC probes resulted in the transfer of two normal embryos, but no pregnancy resulted. Five untransferred embryos were analysed of these four showed trisomy 21 and one was tetraploid. Of four unfertilized oocytes analysed, three were chromosomally abnormal for chromosome 21 and only one was normal haploid. Two oocytes showed an additional single chromatid 21. while the third had two complete chromosome 21s. For this couple 57 of embryos analysed showed trisomy 21 in the majority of cells and although these results are compatible with maternal gonadal mosaicism, analysis of unfertilized oocytes was needed...

Possible Causes

There are a multitude of etiologies for developmental disabilities. The cause can be prenatal, perinatal, or postnatal. Risk factors for developmental disabilities can be biological, environmental, or a combination of both. Genetics plays a role in conditions such as Tay-Sachs disease and other inborn errors of metabolism, Klinefelter's syndrome, Fragile X syndrome, and Down syndrome, that typically lead to developmental disability. Genetic causes may be chromosomal abnormalities, single gene defects, or multifactorial disorders. For example, autism appears to have a genetic component that interacts with developmental factors.