9 edition of Genetics, syndromes, and communication disorders found in the catalog.
Includes bibliographical references and index.
|Statement||Robert J. Shprintzen.|
|LC Classifications||RB155.5 .S57 1997|
|The Physical Object|
|Pagination||x, 316 p. :|
|Number of Pages||316|
|LC Control Number||97020621|
Duane syndrome is a strabismus syndrome characterized by congenital non-progressive horizontal ophthalmoplegia (inability to move the eyes) primarily affecting the abducens nucleus and nerve and its innervated extraocular muscle, the lateral rectus muscle. At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) . Childhood apraxia of speech occurs in children and is present from birth. It appears to be more common in boys than girls. Children with this condition have difficulty planning and producing the precise, refined, and specific movements of the tongue, lips, jaw, and palate that are necessary for intelligible speech. In many cases, the underlying cause of childhood . Genetics have been proven to be a strong predictor for common diseases such as cancer, cardiovascular disease (CVD), diabetes, autoimmune disorders, and psychiatric illnesses. Some geneticists have determined that " human genetic variation is geographically structured" and that different geographic regions correlate with different races. .
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While not a comprehensive review of all existing genetic syndromes involving communication disorders, it is a concise text highlighting the syndromes commonly seen in interdisciplinary clinics (e.g., Downs Syndrome, Huntington's Disease, or Oto-Palatal-Digital, etc.) Chapters: ples of Medical genetics somal syndromes Gene Syndrome (Autosomal Dominant, Autosomal Recessive, and X-Linked Diseases 5/5(1).
Genetics, Syndromes and Communication Disorders 1st Edition by Robert J. Shprintzen (Author)Cited by: CHARGE Syndrome (Genetics and Communication Disorders) 1st Edition by Timothy S. Hartshorne (Author), Margaret Hefner (Author), Sandra Davenport (Author), James W.
Thelin (Author) & 1 more5/5(3). Genetics, Syndromes, & Communication Disorders. by Robert J. Shprintzen Published by Singular Publishing Group Inc., U.
S., Singular Publishing Group, Incorporated in S. : Summary / This chapter contains sections titled: Introduction Why Study Genetic Syndromes.
Genetic Syndromes and Communicative Disorders Conclusions References Genetic Syndromes and Communication Disorders - The Handbook of Language and Speech Disorders - Wiley Online LibraryAuthor: Vesna Stojanovik. ISBN: X: OCLC Number: Description: xix, pages ; 24 cm: Contents: Principles of medical genetics --Chromosomal syndromes --Single gene syndromes --Polygenic-multifactorial syndromes --Non-syndromic hearing loss-connexin --Sporadic syndromes --Environmental sibility: edited by Jack H.
Jung. This is a book about human communication, both normal and disordered, and how our communication abilities are affected by our genes. Many, probably most, communicative disorders are of genetic origin, even if not exclusively genetic. The book includes a chapter on human behavioral genetics and its application to developmental, communicative, and learning and communication disorders book.
Basic concepts underlying the use of quantitative genetic theory to determine if and to what extent genes affect human behavior are introduced.
Genetic Syndromes and Communication Difficulties See our Special Needs Header Page for a full list of special needs information and resources The term syndrome refers to the association of several clinically recognizable features, signs (diagnosed by a doctor), symptoms (reported by the patient / carer), phenomena or characteristics which often occur together.
Dennis Drayna, Ph.D., Scientist Emeritus Research Statement In the Section and communication disorders book Genetics of Communication Disorders (Laboratory of Communication Disorders), we used family- and population-based genetic methods to identify genes responsible for human communication disorders.
The lab had a major focus on the speech disorder stuttering, for which we identified. To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case.
The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and early whitening of the whitening of the hair. texts All Books All Texts latest This Just In Smithsonian Genetics, syndromes, and communication disorders by Shprintzen, Robert J Topics Communicative disorders -- Genetic aspects, Genetic disorders, Communication Disorders -- genetics, Genetics, Medical, Syndrome, Genética, Doenças genéticas, Transtornos da Pages: Additional Physical Format: Online version: Genetic syndromes in communication disorders.
Austin, Tex.: Pro-ed, (OCoLC) Document Type. Get this from a library. Genetics, syndromes, and communication disorders.
[Robert J Shprintzen]. ISBN: OCLC Number: Notes: Originally published: Boston: Little, Brown, © Description: xvi, pages: illustrations ; 27 cm. COVID Resources. Reliable information about the coronavirus (COVID) is available from the World Health Organization (current situation, international travel).Numerous and frequently-updated resource results are available from this ’s WebJunction has pulled together information and resources to assist library staff as they consider how to handle.
Open Library is an open, editable library catalog, building towards a web page for every book ever published. Genetic Syndromes in Communication Disorders by Jack H. Jung, NovemberPro ed edition, Hardcover in English. Genetic Disorders. This book aims to provide an overview on some of the latest developments in several genetic diseases.
It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases. The following is a list of genetic disorders and if known, type of mutation and the chromosome involved.
Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease. Alagille syndrome is a rare genetic disorder that affects the liver, kidney, heart, and other organs of the body.
Symptoms related to this syndrome are usually noticed in the early years of life. It affects around 1 in 70, newborns. It is inherited as an autosomal dominant trait, and the severity of symptoms may vary from individual to.
genetic syndrome, we are much better prepared to understand and support the person effectively • Genetic Syndromes are associated with behavioral phenotypes, or characteristic patterns of behavior and psychological symptoms Knowing that a person with Down syndrome who is hallucinating is more likely to have major depressive disorderFile Size: KB.
Buy Charge Syndrome (Genetics and Communication Disorders) 1 by Hartshorne, Timothy S., Hefner, Margaret, Davenport, Sandra (ISBN: ) from Amazon's Book Store. Everyday low prices and free delivery on eligible orders.5/5(6).
Educating Children with Velo-Cardio-Facial Syndrome (Also Known as 22q Deletion Syndrome and DiGeorge Syndrome) (Genetic Syndromes and Communication Disorders): Medicine & Health Science Books @ ed by: 2.
Human genetics is the medical field with the most rapid progress. This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases.
The chapters were written by 41. For example, Down syndrome (sometimes referred to as "Down's syndrome") or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome There are many other chromosomal abnormalities including: Turner syndrome (45,X0), Klinefelter syndrome (47, XXY), and.
Cri du chat syndrome, or the "cry of the cat. Series: Genetic Syndromes and Communication Disorders (Book 2) Paperback: pages; Publisher: Plural Publishing, Inc.; 1 edition (April 1, ) Language: English; ISBN ; ISBN ; Product Dimensions: x x inches Shipping Weight: 12 ounces (View shipping rates and policies)5/5(1).
Genetic disorders impact not only the physical condition, but also the psychological and social health of patients and their families. Understanding the unique aspects of genetic information and anticipating reactions to genetic tests and diagnoses can help guide a course of action to minimize distress and maximize benefit for both the patient and : Newborn ScreeningServices.
Genetics and speech disorders involve a complicated twisting and turning of details that all come together to form clues about your genetic makeup. Just like with other medical and health issues, the more we know about the likelihood of our genes playing a role in our overall well-being, we can make preventative and proactive decisions.
- (X): Genetic Syndromes in Communication Disorders: Jung, Jack H Books. The Journal of Communication Disorders publishes original articles on topics related to disorders of speech, language and hearing.
Authors are encouraged to submit reports of experimental or descriptive investigations (research articles), review articles, tutorials or discussion papers, or letters to the editor ("short communications").
Examples of Mendelian forms of communication disorders include non-syndromic forms of hearing loss caused by mutations in the GJB2 (connexin 26) gene or syndromic forms of hearing loss such as Usher syndrome (a group of disorders caused by mutations in more than 11 separate genes), Waardenburg syndrome type 1 (caused by mutations in the PAX3.
Genetic Disorders. This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases.
Author(s): Maria Puiu. Language disorder(s) is one area that has been the focus of a number of genetic studies. This paper will provide a brief overview of the different genetic methods employed and the Author: Annie Brookman-Byrne.
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.
Most people with Smith-Magenis syndrome have a broad, square. Sex Chromosome Disorders: More common than autosomal disorders Turner syndrome (45, X) • female births • Extensive karyotype heterogeneity with question about existence of pure monosomy X (99% of 45, X eggs are non-viable) • Short stature, webbing of the neck, cardiovascular abnormalities, lack of secondary sex characteristics, streakFile Size: 1MB.
Genetic Syndromes. What causes genetic disorders. Each cell in the human body contains 23 pairs of inherit one set of the pair from your father and one set from your mother. Each chromosome is made up of many genes, about 2, in each chromosome, for a total of 50, genes in each genes make all the proteins in the body, which.
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking.
Expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech), and most affected individuals are unable to speak.
Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
Noonan syndrome is caused by a genetic. CDKrelated disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial affected typically have motor and language delays, low muscle tone and Causes: Genetic (autosomal dominant mutation in.
The Handbook of Speech and Language Disorders presents acomprehensive survey of the latest research in communicationdisorders. Reflecting the rapid advances in the field, theHandbook features in-depth coverage of the major disordersof language and speech, including perception.
Contributions fromleading experts explore current issues, landmark studies, and themain. Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare.
Some conditions that are not considered rare are on this list and are labeled. Buy Velo-Cardio-Facial Syndrome: Diagnosis and Evaluation v.
1 (Genetic Syndromes and Communication Disorders) 1 by Shprintzen, Robert J., Golding-Kushner, Karen J. (ISBN: ) from Amazon's Book 5/5(2). Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features.
It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to moderate.
Behavioral problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking.