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.

Teaching Down Syndrome Summary

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Author: Helen Middlebrooke

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Down Syndrome Associated ALL

Children with Down syndrome (DS) have a markedly increased risk of developing acute leukemia, including both AML and ALL, with a 20-fold higher risk for ALL than the general pediatric population 38 . A significant advance in our understanding of DS-associated acute leukemia resulted from the demonstration that mutations in GATA1, which encodes a megakaryocyte- and erythroid-specific transcription factor, are present in nearly all cases of transient myeloproliferative disorder and acute megakaryoblastic leukemia (AMKL) occurring in the setting of DS (Fig. 4.2). These mutations result in the expression of a truncated form of GATA1 which is believed to result in dysregulated proliferation of megakaryocytic progenitors, which may in the case of AMKL progress to overt acute leukemia 39 . Fig. 4.2 Pathogenesis of Down syndrome-associated acute leukemia. DS is associated with significantly increased risk for the development of acute leukemia including both AML, particularly AMKL, and ALL. A...

Fertility and Aging Men An Introduction to the Male Biological Clock

Although increasing maternal age has long been known to be associated with an increased incidence of birth defects, new data show that the age of the male does matter and the genetic quality of sperm does decline with age. Several studies have demonstrated that older men are at higher risk of fathering a child with various genetic diseases such as schizophrenia and Down Syndrome, to name a few. Additionally, there has been an increased risk of miscarriage with increasing paternal age.

Advanced Paternal Age and Reproductive Capacity

A trend toward advanced parental age is simultaneously occurring in American men. The birth rate among men 25 to 44 years has been steadily increasing since the 1970s, whereas the birth rate of men less than 25 years has been decreasing (Hamilton et al., 2003). An improved understanding of the effects of increased parental age on the developing fetus and newborn is imperative for counseling older couples preparing for childbearing. Advanced paternal age has been suggested to result in increased spontaneous abortions, autosomal dominant disorders, trisomy 21, and recently, schizophrenia. In addition to structural errors and resultant autosomal dominant disorders, aneuploidy errors in germ cell lines also occur at higher rates with advanced parental age. Trisomy 21 or Down syndrome is a common aneuploidy error that affects 1 800 to 1000 newborns (Cunningham et al., 2001). The association of advanced maternal age and trisomy 21 was first documented as early as 1933 (Fisch et...

Chromosomal Aberrations

The earliest days of cancer genetics began with the analysis of metaphase chromosomes by light microscopy for gross chromosomal abnormalities. With the exception of point mutations, most of the alterations listed above could be detected this way. Aneuploidy is the loss or gain of chromosome number. In its simplest form, this involves loss or gain of a single chromosome (e.g., trisomy 21 or monosomy 7) (Fig. 1a). More complex chromosome anomalies, such as amplifications, deletions, and translocations have been characterized in greater detail by cytogenetic analysis of the banding patterns of metaphase chromosomes. For example, in a translocation, a new chromosome is formed by the fusion of fragments of two different chromosomes, which may be clearly demonstrated by comparing the banding pattern of the new chromosome with that observed in the contributing normal chromosomes (Fig. 1b).

Measurements in Dysmorphology and Clinical Genetics

In the study of syndromes with dysmorphic features, we are looking for recognizable signs that help to define and delineate the specific condition. Those recognizable features may be quite different during different life periods. Using Down syndrome as an example, from embryofetal pathology we have learned that manifestation of the Down syndrome phenotype in a fetus depends on the gestational week, and often very few features are present until near birth. Similarly, there is a changing phenotype during childhood and into adulthood, with the typical phenotype of Down syndrome sometimes becoming hard to recognize in the adult.

Project Title Bridging Genes And Heart Disease In Downs Syndrome

Summary Down syndrome (DS) is a major cause of congenital heart disease (CHD), of which most is related to defective morphogenesis of the endocardial cushions ( EC). Although the embryologic processes underlying cushion morphogenesis are elegantly described, the signalling pathways that lead from genes to defects are largely unknown. The ultimate goal of the research described in this proposal is to define the gen(s) responsible for DS-CHD, to define its role in cushion morphogenesis and to provide models in which to modify its expression. Previous work by this group has defined a DS-CHD region based on human and mouse models and has generated a sequence ready contig, with 300 kb of finished sequence and the remainder by 1 1999, and transcriptional map of 30 cDNAs in the 4 Mb candidate region on chromosome 21, as well as sequencing and characterization of a likely candidate., DS-CAM. Analysis of the human and mouse DS CAM clones reveal a highly conserved novel class of cell adhesion...

Posterior Fontanelle Size

Remarks The posterior fontanelle is usually closed in neonates and only 3 percent of normal newborn infants have a posterior fontanelle that measures more than 2 cm. A third (or parietal) fontanelle may be found in about 5 percent of normal infants about 2 cm anterior to the posterior fontanelle. It occurs with greater frequency in Down syndrome and in congenital rubella syndrome. Fig. 7.30 shows normal values for posterior fontanelle size in African American and Caucasian American children at birth.

Advanced Maternal Age and Maternal UPD15

Since one of the most common causes of maternal UPD15 is trisomy 15 rescue, the possibility of advanced maternal age, similar to that of trisomy 21 (Antonarakis et al., 1993), has been examined in these cases. Nondisjoined chromosomes 15 from 115 cases of maternal UPD15 (ascertained through Prader-Willi syndrome) and 13 cases of trisomy of maternal origin were densely genotyped for microsatellite loci

The Definition Of Mental Retardation

There not only are differences between children with cultural-familial MR and those with organic MR, but among the different genetic disorders that produce cognitive impairment as well. Hodapp et al. (63) found that individuals with fragile X syndrome (FXS) exhibit sequential processing deficits on the K-ABC, while individuals with Down syndrome (DS) do not. Children with Williams syndrome (WS) seem to show remarkable expressive language skills given their typical level of MR (64), although other researchers have found similar cognitive-behavioral profiles between children with WS and age-matched children with FXS, despite the obvious phe-notypic differences between the two genetic disorders (65).

Amyotrophic Lateral Sclerosis

No correlation between SOD activity and the frequency or severity of the disease has been demonstrated so far, suggesting that mutant SOD does not cause FALS because of a deficiency in SOD activity. In addition, an elevation of wild-type Cu,Zn-SOD in Down's syndrome causing the symptoms of the disease could be excluded, a lack of correlation of symptoms with overdosage was found in partial trisomy 21 (128,129).

Analysis of Ridge Patterns

Thenar, hypothenar, and hallucal patterns Patterns may be present in the thenar and hypothenar areas of the palm. Unusual patterns may be helpful in making a specific diagnosis. A lack of ridges in the hypothenar region of the palm can be seen in Cornelia de Lange syndrome. On the soles of the feet, in the hallucal area, a pattern (loop or whorl) is usually seen. If no pattern is present (i.e., there is an arch), the hallucal area is said to have an open field. Open hallucal fields are very rarely found in normal individuals, but are present in about 50 percent of patients with Down syndrome. Radial loops on the fourth and fifth finger are unusual in normal individuals (1.5 percent) but are common in individuals with Down syndrome (12.4 percent).

Analysis of Flexion Creases

A single palmar crease (fusion of FFC and TFC) can be found unilaterally in 4 percent of the normal population and bilaterally in 1 percent of normal individuals. It is twice as common in males as in females. Single palmar creases are seen with increased frequency in Down syndrome.

Neurogenetic Syndromes

Down Syndrome As a result of its relatively high prevalence and distinct cranio-facial features, Down syndrome (DS) is perhaps the most widely recognized genetic syndrome (1). DS is almost always caused by a complete trisomy of chromosome 21 that results from a non-disjunction event, usually with a maternal origin (2). Occurring once in approx 800 live births, DS is the most common genetic cause of mental retardation. In addition to low IQ scores, problems related to memory, language, speech, and motor coordination are frequently reported (3-6).There is now a renewed interest in DS because persons with this condition are at an increased risk for developing Alzheimer-like dementia beginning at a young age.

Modeling Human Disease through Targeted Overexpression

Animal models of human diseases can enhance our understanding of the etiology and progression of a particular disorder and enhance the design of therapeutic strategies. With technical advances in the manipulation of the mouse genome, several transgenic models of human diseases have emerged (see Bedell et al., 1997, for a recent review). These include animal models of cancer (Adams and Cory, 1991 Kappel et al., 1994 Lovejoy et al., 1997), neurodegenerative disorders (Aguzzi et al., 1996 Brown, 1995), atherosclerosis (Bres-low, 1996 Chien, 1996), diabetes (Tisch and McDevitt, 1996), cardiovascular disease (Chien, 1996), Down syndrome (Cabin et al., 1995 Groner, 1995 Mirochnitchenko and Inouye, 1996 Sumar-sono et al., 1996), and others.

Genetic Factors Predisposing to Precursor Lymphoblastic Leukemia Lymphoma

While several genetic disorders are well known to predispose to lymphoblastic leukemia, including Down syndrome, Bloom syndrome, neurofibromatosis, and ataxia telangiectasia 62-66 , patients with these disorders collectively account for fewer than 5 of cases of ALL. Consequently, the existence and identity of predisposing genetic factors in the preponderance of patients with ALL remains largely undefined. The analysis of twins to gain insight into whether there exists a genetic propensity for the development of ALL is complicated by the fact that a significant subset of pediatric ALLs develops in utero with the attendant risk for transplacental leukemic metastasis 67 . Recent whole-genome association analyses have provided some initial insights 68, 69 . Using high-density single-nucleotide polymorphism (SNP)-based analysis, several germline polymorphisms have been identified which appear to confer an increased risk for the development of ALL. In two independent studies, SNPs located...

Acute Lymphoblastic Leukemia

Macrophage Peritoneal Fluid

The etiology of ALL is unknown in the vast majority of cases. Environmental agents, such as ionizing radiation and chemical mutagens, have been implicated, and there is evidence to suggest a genetic factor in some patients. Children with Down syndrome have an increased risk of leukemia, particularly precursor B lymphoblastic leukemia. There is a higher frequency of childhood ALL in industrialized countries compared with in developing countries. It has also been postulated that some cases of childhood leukemia stem from an adverse cellular response to common infections that occur at a later time than was typically experienced in past centuries.45,46 These delayed exposures are believed to increase the risk of genetic mutations in the lymphoid precursors, leading to the development of leukemia.

Altered Notch Signaling in TALL

Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood. 2009 113 2619-2628. 40. Forestier E, Izraeli S, Beverloo B, et al. Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome an iBFM-SG study. Blood. 2008 111 1575-1583. 44. Kearney L, Gonzalez De CD, Yeung J, et al. Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. Blood. 2009 113 646-648. 45. Gaikwad A, Rye CL, Devidas M, et al. Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia. Br J Haematol. 2009 144 930-932. 47. Mullighan CG, Collins-Underwood JR, Phillips LA, et al. Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. Nat Genet. 2009 41 1243-1246. 60. Korenberg JR, Kawashima H, Pulst SM, et al. Molecular definition of a region of chromosome 21...

Acute Myeloid Leukemia

Table 11.2 lists the conditions that have been documented as predisposing to development of AML. The high incidence of individuals having congenital defects such as Down syndrome and bone marrow failure syndromes such as Fanconi's anemia has demonstrated that these factors are often implicated in the pathogenesis of Down syndrome

Scalp and Facial Hair Patterning

Hair directional slope is secondary to the plane of stretch exerted on the skin by the growth of underlying tissues during the period of down-growth of the hair follicles at around 10-12 weeks gestation. The posterior parietal hair whorl is interpreted as the focal point from which the growth stretch is exerted by the dome-like out-growth of the brain during the time of hair follicle development. Malformations that antedate hair follicle development, such as encephalocele, produce aberrations in scalp patterning. Eighty-five percent of patients with primary microcephaly have altered scalp hair patterning, indicating an early onset of abnormal brain development. Aberrant scalp patterning is also found frequently in association with established syndromes including Down syndrome. Thus, aberrant scalp hair patterning may be utilized as an indicator of altered size and or shape of the brain prior to 12 weeks gestation. Early anomalies in development of the eye and of the face can...

Introduction

Fig. 1. a, Aneuploidy monosomy 7 and trisomy 21. b, Interchromosomal translocation t(9 22)(qq). c, Interstitial deletion (1p33). d, Homogeneous staining region (HSR). e, Inversion 14(q11.2, q32). Fig. 1. a, Aneuploidy monosomy 7 and trisomy 21. b, Interchromosomal translocation t(9 22)(qq). c, Interstitial deletion (1p33). d, Homogeneous staining region (HSR). e, Inversion 14(q11.2, q32).

Fontanelles

Figs. 7.22 and 7.23 outline the constant and accessory fontanelles present at birth. The most common accessory fontanelle is the parietal (sagittal) fontanelle, otherwise known as a third fontanelle, which is found in 6.3 percent of infants and may be more common in infants with Down syndrome. The metopic fontanelle represents the extremely long anterior arm of the anterior fontanelle which, in the process of closure, becomes separated from the anterior fontanelle. A metopic fontanelle has been reported in association with craniofacial dysostosis, cleidocranial dysostosis, spina bifida occulta, and meningomyelocoele. It can also occur as an isolated finding. An increased incidence of open metopic fontanelles is found in infants with congenital rubella syndrome, Down syndrome, cleft lip with or without cleft palate, and widened sutures. The metopic fontanelle is easy to palpate, and the discovery of its presence during the examination of the newborn infant may be important clinically.

Ear Length

Remarks Ear defects are important in syndrome diagnosis, particularly in the newborn infant. Small ears have been found to be a consistent clinical characteristic of Down syndrome and are the most clinically apparent malformation in Treacher Collins syndrome and hemifacial microsomia. External ear abnormalities are common in the 22q11.2 microdeletion syndrome. Ears are often protuberant in the presence of a myopathy. The ear is one of the few organs that continue to grow during adulthood. It is

Tongue

That is characterized by a small oral cavity as in Beckwith-Wiedemann or Down syndrome. The tongue may be large if it is the site of a congenital vascular malformation. Acquired forms of macroglossia include trauma and allergic reactions, for example, angioneurotic edema. When considering the tongue in facial diagnosis, one should remember that largeness is not necessarily the same as protrusion.

Inv Dup15

Inv dup chromosomes derived from chromosome 15 account for approx 35 of SMCs (4), and, after trisomy 21, are the most common autosomal chromosomal aberration (16). Although the phenotype associated with the inv dup(15) itself can be variable, uniparental disomy or deletion of the normal chromosome 15 can accompany the inv dup chromosome with additional clinical consequences (17,18). The presence of abnormalities on the normal chromosomes 15, the size of the inv dup(15), and the parental origin of the chromosomal abnormalities all affect the severity of the outcome. This information is critical in the context of genetic counseling, particularly in the setting of prenatal ascertainment of a de novo inv dup(15).

LEjCl

Disseminated intravascular coagulation (DIC), 43, 273 acute, mechanism of, 273-274 conditions precipitating, 273f events triggering, 274t laboratory profile in, 275t treatment, 276 DNA synthesis, 87 Dohle bodies, 146f, 148, 148f, 308 Donath-Landsteiner test, 108 Down syndrome, 161, 175 Duckert, F., 230 Dysfibrinogenemia, 271

Bruce F Pennington

Both strategies are now being actively pursued, and examples of each are presented both in this volume and in a recent volume on neurodevelopmental disorders (Tager-Flusberg, 1999). Examples of the first strategy are neurodevelopmental studies of Down syndrome, A solution for both these problems is the use of animal models, in which the genetic alteration is randomly assigned and the genetic and environmental backgrounds are controlled. Complementary studies of humans and animals with the same genetic (or metabolic) alteration offer a powerful strategy, one that has been very usefully applied to PKU (Diamond, this volume) and is now being applied to fragile X (Willems, Rey-niers, and Oostra, 1995) and Down syndrome (Crnic and Pennington, 2000). As another important advantage, these animal models permit a clearer test of which brain correlates associated with a syndrome are directly caused by the genetic alteration in question. In contrast, neuroimaging findings from humans with a...