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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Communication Skills of People with Down Syndrome

Down syndrome is the most common genetic disorder in children. The genotype involves an extra copy of the short arm of chromosome 21, either as trisomy (95 of cases), a translocation, or expressed mosaicly. This condition is not inherited and occurrs on average in about 1 in 800 live births in the United States. Incidence increases as maternal and paternal age increase. Down syndrome affects almost every system in the body. For example, brain size is smaller in adults though the same size at birth, 50 of these children have significant heart defects requiring surgery, neuronal density in the brain is significantly reduced, middle ear infection persists into adulthood, hypotonia ranges from mild to severe, and cognitive performance ranges from normal performance to severe mental retardation. The remainder of this article will summarize the specific speech, language and communication features associated with this syndrome. The unique features of speech, language, and hearing ability of...

Parents of Children with Down Syndrome A

National support group that offers parent-to-parent counseling, support, and information for new parents of Down syndrome children, information on doctors, hospitals, and professionals. The group also promotes membership in the association for retarded citizens and maintains a speakers' bureau. Founded in 1966, the group publishes two monthly newsletters. For address, see Appendix i. See also association for children with down syndrome association for children with RETARDED MENTAL DEVELOPMENT ASSOCIATION FOR RETARDED CITIZENS CENTER FOR FAMILY SUPPORT FEDERATION FOR CHILDREN WITH SPECIAL NEEDS MENTAL RETARDATION ASSOCIATION OF AMERICA NATIONAL ASSOCIATION OF DEVELOPMENTAL DISABILITIES COUNCILS NATIONAL DOWN SYNDROME CONGRESS NATIONAL DOWN SYNDROME SOCIETY PILOT PARENTS VOICE OF THE RETARDED YOUNG ADULT INSTITUTE AND WORKSHOP.

Down syndrome critical region dscri Region of chromosome 21 DSCR1 encodes calcipressin

Down's syndrome Formerly referred to as mongolism, most frequently a consequence of trisomy of chromosome 21. Common (1 in 700 live births) incidence increases with maternal age. The cause is usually non-disjunction at meio-sis but occasionally a translocation of fused chromosomes 21 and 14. See Down syndrome critical region.

Association for Children with Down Syndrome

A national support group for parents of children with down syndrome and for health professionals. The association acts as a resource and information center about Down syndrome and works to maintain contact with the medical community and with parents of children with Down syndrome. The organization seeks to ease children into the main OPTIONS AND RESOURCES THE ASSOCIATION OF RETARDED CITIZENS, THE ASSOCIATION FOR CHILDREN WITH DOWN syndrome CENTER FOR family support-federation FOR CHILDREN WITH SPECIAL NEEDS MENTAL RETARDATION ASSOCIATION OF AMERICA NATIONAL ASSOCIATION OF DEVELOPMENTAL DISABILITIES COUNCILS NATIONAL DOWN SYNDROME CONGRESS-NATIONAL DOWN SYNDROME SOCIETY PARENTS OF CHILDREN WITH DOWN SYNDROME PILOT PARENTS-VOICE OF THE RETARDED- YOUNG ADULT INSTITUTE AND WORKSHOP.

Most Cases Of Down Syndrome Are Due To Nondisjunction In The Mother

Most often, a baby with Down syndrome is found to have three copies of chromosome 21 if chromosomes in their cells are examined via traditional karyo-typing to classify the chromosomes present by size, centromere position, and banding pattern (Figure 22.2). Most cases of trisomy 21 are due to nondisjunction at the first meiotic division in the child's mother. We know this because we have developed several methods for determining which chromosome came from which parent, one of which makes use of subtle differences in banding patterns for chromosome 21 that can sometimes be seen with some staining techniques used in karyotyping.

Prenatal Diagnosis Of Down Syndrome

Two things can suggest the possibility of Down syndrome maternal age and a test for proteins present in the mother's serum, especially a fetal protein known as a-fetoprotein or (AFP). Given that the risk that a woman over age thirty-five carries a child with Down syndrome well exceeds the risk of the various diagnostic procedures, most mothers in this age group are advised to seek testing. a-fetoprotein is a fetal protein that can cross the placenta and is found in the mother's blood supply. High levels of this protein in the woman's blood can indicate that the nervous system of the fetus has failed to develop properly. However, a low level of AFP in the mother's blood may also indicate the presence of a fetus that is trisomic for chromosomes 21, 13, or 18. Because the number of false positives for this AFP test can be quite high, a better test has recently evolved. This test, called the triple screen, measures two other chemicals in the maternal blood stream, human chorionic...

Down syndrome

Down syndrome A congenital form of mental retardation caused by an extra chromosome, characterized by distinct physical features and developmental disabilities. Down syndrome affects people of all ages, races, and economic levels, occurring once in about every 800 to 1,000 live births. More than 350,000 people in the United States have Down syndrome. The condition was first described in 1959 by French physician Jerome Lejeune, who discovered that instead of the usual 46 chromosomes present in each cell, there were 47 in the cells of individuals with Down syndrome. Because 95 percent of all cases of Down syndrome occur because there are three copies of the 21st chromosome, it is also referred to as trisomy 21. While Down syndrome is usually caused by an error in cell division, two other types of chromosomal abnormalities (mosaicism and translocation) are also implicated. Regardless of the type, all people with Down syndrome have an extra portion of the number 21 chromosome present in...

American Board of Orthopaedic Microneuro


Internal Medicine Pediatrics

Internist-pediatricians provide the highest quality primary care to patients of all ages. It is possible for patients and families to meet all their health care needs in the same setting with the same doctor. You could potentially take care of the same patient from birth to middle age Adolescent medicine illustrates this strength of specializing in both medicine and pediatrics. Normally, patients switch from a pediatrician to an internist around the age of 18. Knowledgeable in development concerns and health issues of young adults, the familiar IMP is rather inviting to a teenager as their adult physician. This continuity of care is particularly beneficial for children with chronic illnesses, such as cystic fibrosis, Down syndrome, or congenital heart defects, as they transition into adulthood.

Center for Hyperactive Child Information

See also association for children with down syndrome association for children with retarded mental development association for retarded citizens federation for children with special needs mental retardation mental retardation ASSOCIATION OF AMERICA NATIONAL ASSOCIATION of developmental disabilities councils national down syndrome congress national DOWN SYNDROME SOCIETY PARENTS OF CHILDREN WITH down syndrome pilot parents voice of the retarded young adult institute and workshop.

Congenital brain defects

Congenital brain defects Brain defects present at birth. These defects may be caused by genetic or chromosomal problems and result in a variety of disorders such as down syndrome, tay-sachs disease, or cri du chat syndrome (all involving retardation). In addition, brain defects may be structural in nature these are usually fundamental and untreatable, such as microcephaly (small head) and anencephaly (absence of the brain). Others such as hydrocephalus (water on the brain) are correctable while the fetus remains in the womb.

Chromosomal Inheritance

There are several family and medical history clues that suggest a chromosomal problem (refer to Table 2.1). Always think chromosomes any time a child is born with three or more minor birth defects (such as protuberant ears, unusually shaped hands, and wide-spaced eyes). Minor anomalies are generally defined as characteristics that are of no serious cosmetic or functional consequence to the patient (Jones, 1997). A chromosome aberration should also be considered in an individual with two major defects (such as cleft lip and palate and a heart defect), or one major anomaly and two minor anomalies. Consider a chromosome study in any person with mental retardation, particularly if there are accompanying dysmorphic features or birth defects. A history of multiple miscarriages (three or more) is suggestive of a parental chromosome rearrangement. This is particularly true if there is a family history of multiple miscarriages and mental retardation, with or without associated birth defects...

Fetal alcohol syndrome

See also center for family support mental retardation ASSOCIATION OF AMERICA NATIONAL ASSOCIATION OF DEVELOPMENTAL DISABILITIES COUNCILS NATIONAL DOWN SYNDROME CONGRESS NATIONAL DOWN SYNDROME SOCIETY PARENTS OF CHILDREN WITH down syndrome pilot parents voice of the retarded young adult institute and workshop.

Happy but Developmentally Delayed 5Year Old

Blood and urine collected for extensive biochemical organic and amino acid profiling revealed no evidence of inborn errors of metabolism. Cytogenetic karyotyping showed 46 XY chromosomes, effectively ruling out trisomy 21 (Down's syndrome). PCR (polymerase chain reaction) testing for fragile X syndrome showed a normal number of CGG repeats. To investigate the possible presence of Angelman syndrome, molecular cyto-genetic region probes for SNRPN (small nuclear ribonucleoprotein polypeptide N, a promoter that lies in a CpG island of 15q11-13) and D15S10 (molecular designation for a region of chromosome 15q11-13) were utilized. Probe hybridization to both chromosome 15 s was observed thus no deletions were detected. Southern blot analysis was performed on Xba- and Not I-digested DNA with the SNRPN exon a probe, and normal methylation

Mental Retardation Association of America A

See also the arc association for children with down syndrome association for children with DISABILITIES COUNCILS NATIONAL DOWN SYNDROME congress national down syndrome society par ents OF CHILDREN WITH DOWN SYNDROME PILOT PARENTS VOICE OF THE RETARDED YOUNG ADULT INSTITUTE AND WORKSHOP.

National Alliance for the Mentally Ill NAMI A


Communication Disorders in Infants and Toddlers

Early intervention services under Part C is decided by each state's lead ICC, and as a result, varies from state to state. Eligibility is often determined by the presence of a developmental delay in physical, cognitive, speech and language, social or emotional, and adaptive (i.e., self-help) skills or eligibility may be based on the degree of risk that the child has for developing a delay. There are three types of risks established risk, biological risk, and environmental risk. In the case of established risk, a child displays a diagnosed medical condition, such as Down syndrome, fragile X syndrome, or Turner's syndrome, that is known to influence development negatively. Children with an established risk qualify for early intervention services. In contrast, a child who is biologically at risk exhibits characteristics (e.g., very low birth weight, otitis media, prematurity) that may result in developmental difficulties. A child with an environmental risk is exposed to conditions that...

National Center for Learning Disabilities A

National Down Syndrome Congress A national support group for families of those with down syndrome (ds), educators, health professionals, and other interested individuals. The organization answers questions from parents and refers them to local groups, and works to promote the welfare of persons with Down syndrome. The congress promotes the belief that persons with DS have the right to a normal and dignified life, particularly in the areas of education, medical care, employment, and human services. The group examines issues of social policy and conditions that limit the full growth and potential of children and adults with Down syndrome. The group coordinates efforts and activities of local parents' organizations, and acts as a clearinghouse of information. See also association for children with down syndrome association for children with needs MENTAL RETARDATION ASSOCIATION OF AMERICA NATIONAL ASSOCIATION OF DEVELOPMENTAL DISABILITIES councils national down syndrome society parents of...

Assessment Principles

The following principles have evolved from our research over the past 10 years. Children with Down syndrome are very challenging to evaluate. The first and perhaps the only principle is to not make any assumptions about perceptual, motor, and cognitive skills or the child's experience with oral and written language. We suggest the following as guidelines for developing an assessment protocol. Access all information sources about current communication abilities across contexts school, home, day care, and community. Review all data available on motor and cognitive development as well as perceptual (hearing and vision) status to direct the assessment decision-making process. Use flexible communication assessment protocols that can meet the specific attention shifts and motivational challenges of people with Down syndrome. Make sure the context of the assessment matches the child's performance level (i.e., play-based, observation, and standardized measures). Contrast measures conducted...

Challenges for Accurate Assessment

It has been widely reported that children with Down syndrome have motor deficits. Hypotonia is frequently cited as a cause, but there are little data to support this claim. Motor deficits are quite variable, with some children performing at age level and others show significant motor limitations delaying the onset of ambulation and other motor milestones. Testing protocols must take into consideration the motor demands on the child relative to the child's motor abilities. Make sure that the assessment tasks require motor responses within the child's capabilities. Vision. France (1992) provides a detailed account of the visual deficits of children with Down syndrome. He followed a group of 90 children and reported that 49 had visual acuity deficits, with myopia being the most common. He also documented oculomotor imbalance in over 40 of the children, convergent strabismus accounting for the majority of these cases. In the majority of these cases only glasses were...

Promoting Family Communication Supporting Language Development

Ities, and providing new challenging opportunities. As we consider increasing the frequency of communication with children with Down syndrome, we find that family styles are similar to those of typical children. Parents adjust their language and encourage their child's performance through attention and support for task completion. Increasing the frequency of talk should be encouraged in the context of family communication about the child's daily activities. Research on language learning in children with Down syndrome has documented that language learning is occurring and continues through adolescence (Chapman et al., 2002). The recent research on family communication style and frequency of communication may account for why some children with Down syndrome learn language more rapidly than other children. In our experience, families with children making good progress with their language and communication skills share common features. They select language levels relative to their child's...

Who Is Running the Show Parents Versus Professionals

Dividual family styles and needs renders many family intervention programs ineffective, with families judged as uninterested when in fact it is the therapists that have failed. The third limitation is the failure of speech-language professionals to realize that families have other aspects of their lives that need attention, i.e., the activities of daily living, financial challenges, health concerns, other educational issues, and other family members. She also points out that most school and clinic settings allow limited time for family interaction, perhaps once-a-year visits. While most of these limitations can be attributed to job settings, we must ensure that the family context not be overlooked when designing effective intervention sequences for children with Down syndrome. See also mental retardation. Chapman, R. S., Hesketh, L. J., and Kistler, D. (2002). Predicting longitudinal change in language production and comprehension in individuals with Down syndrome Hierarchical linear...

Box 221 People With The Same Disorder Can Be Quite Different

Not all Down Syndrome individuals will have all of the characteristics listed in this chapter. Whether you are considering the information in this chapter or in the rest of the book, whatever descriptors we use for Klinefelter Syndrome, Turner Syndrome, Down Syndrome, or any other human disorder, not all features apply to all the people affected by that disorder. People are unique these disorders can manifest themselves quite differently from one person to the next. Keep in mind that, even if a discussion of someone with Down syndrome focuses on chromosome 21, that person's overall characteristics are affected by differences on all of the other chromosomes, too. Some individuals with Down syndrome are born with heart defects, some are not. Many suffer from substantial cognitive deficits, sometimes substantial enough to warrant institutional care, but in contrast, we have heard about at least one specific young woman with Down syndrome who is attending college. When a disorder is...

Box 222 Partial Aneuploidy Through Translocation Of A Chromosomal Segment

Sometimes a broken piece of a chromosome becomes attached to another chromosome through a process called translocation. The extra piece of chromosomal material gets carried along through meiosis when the chromosome it is attached to goes through normal pairing and segregation. What happens if a piece of chromosome 21 breaks off and sticks onto chromosome 13 Each of the germ cells produced by meiosis will have a normal copy of chromosome 21. One of the daughter cells will get the normal copy of chromosome 13 and the other will get the translocated copy of 13 that has some genes from chromosome 21. The result of meiosis will be some normal germ cells and some cells in which the translocated part of chromosome 21 is aneuploid. After fertilization, the resulting zygote will have three copies of the translocated part of chromosome 21 and two copies of the rest of chromosome 21. The resulting child will have some or all of the Down syndrome characteristics, depending on whether the...

Language Disorders in School Age Children Overview

Traditionally, a distinction was made between language delay and language deviance. For example, children with mental retardation were considered to show a delayed profile of language development, consistent with delay in other cognitive abilities. Children with autism were considered to show deviant language characterized by patterns not found for typically achieving children. Current research suggests that this global distinction does not fully capture the language profiles of children with language disorders. Contrary to the idea of simple delay, for example, children and adolescents with Down syndrome show greater deficits in expressive than in receptive language (Chapman et al., 1998). And contrary to the notion of overall language deviance, children and adolescents with autism have been found to produce narratives similar to those of children with mental retardation (Tager-Flusberg and Sullivan, 1995).

Memory and Processing Capacity

Investigators have examined short-term or working memory abilities in children with varying profiles of language and cognitive deficits, including children with Down syndrome, Williams' syndrome, Landau-Kleffner syndrome, learning disabilities, and specific language impairment (SLI). Of special interest are children with SLI, who demonstrate significant language deficits in the absence of any clearly identifiable cause such as mental retardation or hearing loss. One theoretical camp views SLI in terms of limited processing capacity. There are various formulations of limited capacity accounts of SLI, including hypotheses about specific deficits in phonological working memory and hypotheses regarding more generalized difficulties in information processing and storage that affect performance across modalities (cf. Leonard, 1998). Difficulties discussed here are limited to poor nonword repetition, reduced listening span, and poor serial recall.

Rights to Life and Reproduction

The genetic sciences have revealed in considerable detail the mechanistic processes by which genes direct human development and operation. They also have revealed the many things that can go wrong. One common religious tenet with which scientific understanding appears incompatible is that the metabolic fates of developing embryos are governed by intelligent and caring supernatural forces. To the contrary, they are governed by natural gene-environment interactions that unfortunately can include such idiosyncratic molecular happenstances as whether an oxygen radical may have induced a particular mutation in the hypoxanthine-guanine phosphoribosyltransferase gene leading to Lesch-Nyhan syndrome, or whether a particular chromosomal nondisjunction event during meiosis has produced Down syndrome. The mere occurrence of such genetic conditions indicates we cannot trust omnipotent powers (or nature) to intervene against serious molecular-based disabilities. Should we then take the reins

Box 344 Sample Indications That Might Lead Someone To Seek Advice From Professional Geneticists

Some efforts to evaluate risk factors are carried out as large scale screens of entire populations rather than being done on an individual basis by individual choice. Some of the simpler less, invasive screens, such as a blood test for a-fetoprotein (AFP), are quick, minimally invasive, and inexpensive enough that they are routinely done on most pregnant women in many technologically advanced countries. In the case of AFP, which is produced by the fetus, a low concentration of this protein in the mother's blood is a possible indicator for Down syndrome, whereas a very high value might be indicative of a neural tube defect such as spina bifida. This test alone is not sufficient to diagnose either disorder because there is a lot of overlap in the values that can result for each phenotype. There are too many false positives, but a high or low value would justify additional testing that is less easily done but much more accurate (Figure 34.1). As methods for identification of fetal...

Maternal Blood Screening

The AFP level alone does not provide a definitive diagnosis, just an indication that further testing such as ultrasound examination (sonar imaging of the fetus in the mother's uterus) is needed. The situation is complicated by the fact that levels of AFP that correspond with a normal pregnancy overlap with the levels of AFP found in situations where the fetus has Down syndrome (which will produce somewhat lower levels of AFP) or spina bifida or other disorders called neural tube defects (where the levels are somewhat higher). In fact, as we can see in Figure 34.1, there is a set of AFP values that can be found in any of these three situations- normal, Down syndrome, or spina bifida. As shown in Figure 34.1, the maternal blood AFP concentration is often reduced in fetuses with Down syndrome and in those fetuses with some other autosomal trisomies, as well. However, note that the distributions for normal and Down syndrome fetuses overlap far more...

Mechanism And Etiology

The association between autosomal aneuploidy and maternal age has long been recognized. In 1933, Penrose demonstrated that maternal age was the key factor for the birth of Down syndrome children (27). Why aneuploidy is maternal-age-dependent and what constitutes the mechanism and etiology of chromosomal nondisjunction have been topics of much research, as summarized below. Nondisjunction can occur during either meiosis I (MI) or meiosis II (MII). In MI, homologous chromosomes pair and form bivalents (see Chapter 2). Malsegregation of homologous chromosomes can occur in one of two ways. The first involves nondisjunction of the bivalent chromosomes with both homologs going to the same pole (see Fig. 1d,e). This mechanism, as shown by Angell, can be a very rare occurrence (28). The second type of error involves premature separation of the sister chromatids of one homolog of a chromosome pair. Subsequent improper distribution of one of the separated chromatids results in its segregation...

Association for Retarded Citizens ARC A

Syndrome AMERICAN NETWORK OF COMMUNITY OPTIONS AND RESOURCES ASSOCIATION FOR CHILDREN with retarded mental development center for FAMILY SUPPORT FEDERATION FOR CHILDREN WITH SPECIAL needs jarc mental retardation association OF AMERICA NATIONAL ASSOCIATION OF DEVELOPMENTAL DISABILITIES COUNCILS NATIONAL DOWN SYNDROME congress national down syndrome society parents of children with down syndrome pilot parents voice of the retarded

Mesencephalon See midbrain

Chromosomal defects Humans normally have 46 chromosomes grouped in 23 pairs that carry the genetic code. In some cases, a genetic fault may occur at the chromosomal level. For example, individuals with Down syndrome have an extra copy of chromosome 21. In these cases of chromosome problems, microcephaly is often present along with other problems.

The Approach Look For The Rare But Remember The Ordinary

Instead of discussing the potential genetic disorders associated with every common medical condition, I shall focus on a selection of medical-family history signposts representative of medical conditions with a potential hereditary etiology. For example, leukemia, although a rare complication of Down syndrome, is not a useful signpost for recognizing this condition because an infant with Down syndrome is more readily diagnosed by other signposts. In contrast, leukemia is a common cancer in children and adults in the familial cancer syndrome Li-Fraumeni (see Chapter 5). In this instance, knowing more about the family history can aid the clinician in deciding on genetic testing and health management strategies for relevant family members. The patient's answers to such targeted queries can be transposed into a medical pedigree and used as an investigative map to assist with diagnosis and risk appraisal.

Jewish Association for Retarded Citizens JARC


Speech Disorders in Children A Psycholinguistic Perspective

Psycholinguistic Model Repetition

In a medical perspective, speech and language problems are classified according to clinical entity. Commonly used labels include dyspraxia, dysarthria, and stuttering. Causes of speech difficulties can be identified (e.g., cleft palate, hearing loss, neurological impairment) or an associated medical condition is known (e.g., autism, learning difficulties, Down syndrome).

Physical Birth Anomalies And Variants

The identification of minor birth anomalies and differences is an essential component of syndrome recognition (a syndrome is a combination of causally related physical variants). A simian crease (a single line across the palm versus the more usual transverse parallel lines) is a normal finding in 3 of the general population but it is a clinical finding in almost half of all neonates with Down syndrome (Jones, 1997). A person who has three minor birth anomalies, or a major anomaly with two minor anomalies, is likely to have a syndrome. An individual with three or more minor anomalies should also be evaluated for underlying major malformations (such as a heart defect) (Cohen et al., 1997). Table 4.3 includes examples of minor physical differences detectable at birth or shortly thereafter that may be seen in isolation or as part of a syndrome.

Biography of Erik Erikson

Erikson's search for identity took him through some difficult experiences during his adult developmental stage (Friedman, 1999). Accordmg to Erikson, this stage requires a person to take care of children, products, and ideas that he or she has generated. On this issue, Erikson was deficient hi meeting his own standards. He failed to take good care of his son Neil, who was born with Down syndrome. At the hospital while Joan was still under sedation, Erik agreed to place Neil hi an institution. Then he went home and told his three older children that then brother had died at birth. He lied to them much as his mother had lied to him about the identity of his biological father. Later, he told his oldest son Kai the truth, but he continued to deceive the two younger children, Jon and Sue. Although his mother's lie had distressed

PNature Nurture Question from the Perspective of Psychological Behaviorism

Five Biological Factors Personality

During the process of learning, biological factors may facilitate or impede certain types of learning. Staats suggests that many biologically based disorders, such as Down syndrome, affect learning. People with these biological variations may be able to learn more slowly, or with different sequences of tasks and reinforcements, than others. They can learn, however, if their environment provides the opportunity. By recognizing that biological differences do not directly cause the typical symptoms of these disorders, but only change the circumstances of learning, the theory provides direction for effective intervention. What about variations in intelligence among people who are not affected by Down syndrome or other known sources of low intelligence Are such variations simply a matter of heredity (cf. Cattell, Chapter 8) Without denying that heredity has an effect, Staats describes many ways of interacting with children that enhance their intelligence. He taught his daughter numbers by...

Inclusion Models for Children with Developmental Disabilities

Second is the broad variations in research purposes and methods. Most outcome studies have primarily addressed the social benefits of inclusion for children with severe development disabilities, such as autism or Down syndrome. The results are complicated to evaluate because of significant disparities among studies in their definitions of inclusion, sample characteristics, such as ages, grades, gender, and type of disabilities, and the instructional or intervention focus (McGregor and Vogelsberg, 1999 Murawski and Swanson, 2001).

Otitis Media Effects on Childrens Language

The potential impact of frequent and persistent hearing loss due to OME on later language skills may be particularly important to examine in children from special populations who are already at risk for language and learning difficulties. Children who have Down syndrome, fragile X syndrome, Turner's syndrome, Wil-liams's syndrome, cleft palate, and other craniofacial differences often experience frequent and persistent OME in early childhood (Zeisel and Roberts, 2003 Casselbrant and Mandel, 1999). This increased risk for OME among special populations may be due to craniofacial structural abnormalities, hypotonia, or immune system deficiencies. A few retrospective studies have reported that a history of OME further delays the language development of children from special populations (Whiteman, Simpson, and Compton, 1986 Loni-gan et al., 1992).

Mental Retardation and Speech in Children

The majority of research on children with mental retardation has involved children with Down syndrome (or trisomy 21). This syndrome is the most common genetic cause of mental retardation, occurring in approximately one out of every 800 births. Because Down syndrome is identifiable at birth, researchers have been able to trace developmental patterns from the first months of life. The development of speech and language is severely affected in children with Down syndrome, with levels lower than would be expected, given mental age (Miller, 1988). Speech intelligibility is compromised throughout the life span because of problems with articulation, prosody, and voice. Children with Down syndrome differ from the normal population in respect to a variety of anatomical and physiological features that may affect speech production. These features include differences in the vocal cords, the presence of a high palatal vault and a larger than normal tongue in relation to the oral cavity, weak...

Speech Disorders in Children Birth Related Risk Factors

The most important federal legal foundation for developmental services for young children with medical needs is the Individuals with Disabilities Education Act (IDEA). This law gives individual states the authority to determine which conditions and factors present at birth place a child at sufficient risk for future developmental delay that the child qualifies for education services. Examples of conditions and factors that the act indicates place an infant at risk for future developmental delay are listed in Table 1. A single child might have several conditions and risk factors. For example, a child born with Down syndrome might also experience respiratory distress as a consequence of the chromosomal abnormality, as well as an unrelated congenital infection. Chromosomal abnormalities such as Down syndrome Genetic or congenital disorders Children with hearing impairment and those with Down syndrome are two relatively large populations with birth-related conditions and factors that are...

Early Semantic Development in Children with Developmental Language Disorders

Down syndrome is another condition in which intra-linguistic referencing reveals semantics as a relative strength. In the Down syndrome population, receptive single-word vocabulary is unaffected in early childhood and may exceed nonverbal cognitive ability by adolescence (Chapman, 1995). However, children with Down syndrome demonstrate semantic delays relative to their normal (mental-age-matched) peers. Soon after the onset of first words, expressive vocabulary development begins to lag (Cardoso-Martins, Mervis, and Mervis, 1985). As children with Down syndrome learn to combine words into sentences, their expressive delays in lexical semantics relative to their MLU-matched peers are manifested as a lower rate of verb use per sentence (Hesketh and Chapman, 1998). As in SLI, children with Down syndrome have difficulty expressing meanings with grammatical morphemes and noncanonical word order (Kumin, Councill, and Goodman, 1998). Limited diversity of vocabulary is characteristic of their...

Trisomies For Chromosomes 13

Excluding rare exceptions, only two other human trisomies involving autosomes have been reported among live births. These are trisomy 13 (sometimes called Edwards syndrome) and trisomy 18 (sometimes called Patau syndrome). These usually have a characteristic set of congenital problems, including a high frequency of severe cardiac and neurological problems.1 Trisomy 18 is observed at a very low frequency (about 1 out of 8000 live births). The incidence at conception is much higher, but most of these embryos are miscarried spontaneously. Trisomy 13 is even less frequent, occurring in about 1 in 25,000 live births. Like Down syndrome, the incidence of these trisomies increases dramatically with advancing maternal age.

External Ocular Adnexa

External Adnexa

The canthi are the corners of the eye where the upper and lower lids meet. The lateral canthus (toward the ear) forms a 30 to 40 degree angle and should hug tightly against the globe. The medial canthus (next to the nose) is more open and rounded and may be covered by a fold of skin in some individuals. This fold is called the epicanthus and is normal in individuals of Asian descent. Infants of any race may exhibit an epicanthus, but in this case, the fold usually disappears as the child grows. It is also seen in individuals with Down Syndrome. Documentation canthi normal epicanthus present absent

Genetics and Craniofacial Anomalies

Down syndrome is the most common autosomal defect. The affected individual has an additional chromosome 21 (trisomy 21), for a total of 47 chromosomes, or a translocation trisomy. Down syndrome is characterized by mental retardation and a number of craniofacial and other characteristics. Hearing loss may be congenital, sensory, and there is a high incidence of middle ear disorders. Trisomy 13 and 18 syndromes, less common and with more dramatic abnormalities, are characterized by inner ear dysplasias involving the organ of Corti and stria vacularis, external and middle ear malformations, cleft lip and palate, and other defects.

Drowning 153

Most people with Down syndrome have some level of mental retardation ranging from mild to moderate range, but most children with Down syndrome learn to sit, walk, talk, play, toilet train, and do most other activities. Because speech is often delayed, careful attention should be paid to the child's hearing, as retention of fluid in the inner ear is a very common cause of hearing and speech difficulties.

Free radicals 111

Many children with fragile x are mentally retarded (as often are their mothers), but others with the syndrome have normal mental capacity. In fact, fragile X is the most common cause of mental retardation in males after down syndrome. Although males are mainly affected, women are able to carry the genetic defect that is responsible for the disorder and pass it on to some of their sons, who are affected, and some of their daughters, who in turn become carriers of the defect. Approximately one in 1,500 men are affected and one in 1,000 women are carriers. About one-third of female carriers show some degree of intellectual problems.


Mosaicism describes the phenomenon when some cells in an organ or tissue have a different genetic constitution from the other cells. Chromosomal mosaicism refers to a chromosome abnormality that occurs after fertilization during mitosis at an early cell stage. For example, a child who has mosaic trisomy 21 (Down syndrome) has some cells that are normal (diploid), and some cells that have the extra 21st chromosome (trisomy).

Partial Aneuploidy

We think of and talk about Down syndrome as being the result of trisomy 21, that is, we talk about Down syndrome in terms of there being three copies of chromosome 21 present. However, in about five percent of Down syndrome cases, a baby is found that does not have three full copies of chromosome 21 but instead carries an extra copy ofjust a piece of chromosome 21 (Box 22.2). Why should triplication of a chromosomal region be bad The answer lies in the complex interactions between various genes in our genomes and of the proteins they encode. Many genes produce proteins that act to regulate other genes, and thus the amount of protein they produce must be tightly regulated because either too much or too little can cause changes in levels of expression of many other genes. In other cases, many different proteins must combine together to form large, complex structures in the cell. In those cases, the exact amount of each protein component may well be critical to having the structures end...

Further Readings

Boudreau, D., and Chapman, R. (2000). The relationship between event representation and linguistic skill in narratives of children and adolescents with Down syndrome. Journal of Speech, Language, and Hearing Research, 43, 1146-1159. Kay-Raining Bird, E., Cleave, P., and McConnell, L. (2000). Reading and phonological awareness in children with Down syndrome A longitudinal study. American Journal of Speech-Language Pathology, 9, 319-330.

Genetic Screening

In principle, genetic testing can be conducted for any genetic disease for which DNA markers have been identified, and at virtually any stage of the human life cycle. Although often described as tests for genetic birth defects, many of the assays are applied routinely to prenatal individuals. Classic amniocentesis, whereby fetal cells are sampled for genetic diagnosis starting at sixteen weeks of gestation, is used widely to screen for genetic conditions such as Down syndrome in high-risk pregnancies. A procedure known as chorionic villi sampling (CVS) permits the sampling of cells from embryos as young as eight weeks.21 Early rather than late detection of serious genetic defects in utero usually is deemed desirable by all parties concerned because it gives families time to consider their choices.

Autosomal Trisomies

Trisomy 21 Trisomy 21 47,XX or XY,+21 (see Fig. 4) was the first chromosomal abnormality described in humans (49). The phenotype was delineated by John Langdon Down (1828-1896) in 1866 and is referred to today as Down syndrome (50). It is the most common single known cause of mental retardation. The frequency in the general population is approximately 1 in 700. Down syndrome is more frequent in males, with a male-to-female ratio of 1.2 1. A recent study using multicolor FISH showed that among sperm disomic for chromosome 21, significantly more were Y-bearing than X-bearing (51). This finding was consistent with earlier reports showing an excess of males among trisomy 21 conceptuses that resulted from paternal meiotic errors (19). This preferential segregation of the extra chromosome 21 with the Y chromosome contributes to a small extent to the observed sex ratio in trisomy 21 patients. Other mechanisms, such as in utero selection against female trisomy 21 fetuses, must also exist....

Mental Retardation

And language intervention during the developmental period (Rosenberg and Abbeduto, 1993). A substantial body of research has addressed the language and communication abilities of children and adults with mental retardation who speak. In particular, strong empirical findings about the communication abilities of children and adults with Down syndrome, fragile X syndrome, and Williams syndrome suggest a complex picture, with different relations between language comprehension and production and between language and cognition. The development of communicative and language intervention approaches for children with mental retardation who speak is an area of remarkable developments (Kaiser, 1993). Psycholinguistic research findings and behavioral instructional procedures have provided the foundation for language intervention protocols for teaching children with mental retardation specific speech and language skills. An early emphasis on direct instruction was followed by a shift away from the...