Accompanying Conditions  Syndromes

Communication disorders are common to many syndromes:

syndrome - A set of signs or a series of events occurring together that often point to a single disease or condition as the cause.

The following definitions are from the National Institute of Neurological Disorders and Stroke website.

Agenesis of the Corpus Callosum (ACC) is a rare congenital abnormality in which there is a partial or complete absence (agenesis) of the corpus callosum. The corpus callosum is the area of the brain that connects the two cerebral hemispheres. In most patients, ACC is diagnosed within the first two years of life.The first symptoms of ACC are usually seizures, which may be followed by feeding problems and delays in holding the head erect, sitting, standing, and walking. The seizures may be caused by a very common disorder called infantile spasms, which is associated with ACC. There may be impairments in mental and physical development, hand-eye coordination, and visual and auditory memory.
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Angelman syndrome is a neurological disorder characterized by severe congenital mental retardation, unusual facial appearance, and muscular abnormalities. Symptoms of Angelman syndrome include unstable jerky gait, hand flapping, unusually happy demeanor, developmental delay, lack of or diminished speech, and microcephaly (small head). Epilepsy may develop in the early years of life, however it may decrease with age. Patients may also have balance problems.
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Autism Spectrum Disorder is classified as one of the pervasive developmental disorders of the brain. It is not a disease. People with classical autism show three types of symptoms: impaired social interaction, problems with verbal and nonverbal communication, and unusual or severely limited activities and interests. These symptoms can vary in severity. In addition, people with autism often have abnormal responses to sounds, touch, or other sensory stimulation. Symptoms usually appear during the first three years of childhood and continue through life. Recent studies strongly suggest that some people have a genetic predisposition to autism. Researchers are looking for clues about which genes contribute to this increased susceptibility. In some children, environmental factors also may play a role.
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Cerebral palsy describes a group of chronic disorders impairing control of movement that appear in the first few years of life and generally do not worsen over time. The disorders are caused by faulty development of or damage to motor areas in the brain that disrupts the brain's ability to control movement and posture. Symptoms of cerebral palsy include difficulty with fine motor tasks (such as writing or using scissors), difficulty maintaining balance or walking, involuntary movements. Early signs of cerebral palsy usually appear before 3 years of age. Infants with cerebral palsy are frequently slow to reach developmental milestones such as learning to roll over, sit, crawl, smile, or walk. Doctors diagnose cerebral palsy by testing motor skills and reflexes, looking into medical history, and employing a variety of specialized tests.
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Cornelia de Lange syndrome (CdLS) is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made.

As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.

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Down syndrome is usually caused by an error in cell division called non-disjunction. However, two other types of chromosomal abnormalities, mosaicism and translocation, are also implicated in Down syndrome - although to a much lesser extent. Regardless of the type of Down syndrome which a person may have, all people with Down syndrome have an extra, critical portion of the number 21 chromosome present in all, or some, of their cells. This additional genetic material alters the course of development and causes the characteristics associated with the syndrome.
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Fragile X syndrome is an X-linked hereditary condition which causes a wide range of mental impairment, from mild learning disabilities to severe mental retardation. It is the most common cause of genetically-inherited mental impairment. In addition to mental impairment, fragile X syndrome is associated with a number of physical and behavioral characteristics.

Difficulties in speech and language development are common to boys with fragile X syndrome. In fact, delays in speaking may be the first sign to parents that something might be wrong in their child's development. In girls, many verbal skills may be strengths, but weaknesses may occur in some conversational abilities.
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Landau-Kleffner syndrome (LKS), also called acquired epileptiform aphasia, is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (loss of language) and an abnormal electro-encephalogram (EEG). LKS affects the parts of the brain that control speech and comprehension. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, mental retardation, childhood schizophrenia, or emotional/behavioral problems. Links

Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II) is a rare genetic disorder caused by a small deletion on the long arm of chromosome 8. It is what scientists call a contiguous gene syndrome, because more than one gene within the same location is affected, and each altered gene is responsible for some of the overall characteristics.
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Myasthenia gravis is characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Muscles that control eye and eyelid movements, facial expression, chewing, talking, and swallowing are often, but not always, involved. The first noticeable symptoms of myasthenia gravis may be weakness of the eye muscles, difficulty in swallowing, or slurred speech.
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Prader-Willi syndrome is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy by excessive eating and gradual development of morbid obesity, unless externally controlled. All patients have some degree of cognitive impairment; a distinctive behavioral phenotype is common.
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Kabuki syndrome - children with Kabuki have similar facial features, most notably, the large eyes, long and thick eyelashes, arched eyebrows, flat nasal tip and prominent ears. Cleft lip/palate or high arched palate may cause feeding and speech difficulties. Children with Kabuki often have low muscle tone. This affects both fine and gross motor activities. Virtually all of the children benefit from physio and occupational therapy. A significant number of children experience seizures. Feeding problems can be varied. Many of the children have either strabismus or nystagmus. Early intervention is important.
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Klinefelter syndrome - Males usually have one X and one Y chromosome, i.e. the chromosome constitution 46,XY. Males with Klinefelter's syndrome have two X chromosomes (47,XXY), in rare cases three (48,XXXY) or four (49,XXXXY) X-chromosomes. The X-chromosomes carry genes in terms of development of testicles, sex hormone production and physical sex development in general as well as to a certain extent also height growth. Klinefelter-boys have a somewhat delayed motor and linguistic development as well as a delayed maturing period.
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Rett syndrome (RS) is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide. The child with RS usually shows an early period of apparently normal or near normal development until 6-18 months of life. A period of temporary stagnation or regression follows during which the child loses communication skills and purposeful use of the hands. Other problems may include seizures and disorganized breathing patterns which occur when awake. Apraxia (dyspraxia), the inability to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of RS. It can interfere with every body movement, including eye gaze and speech, making it difficult for the girl with RS to do what she wants to do. Links

Turner syndrome is a genetic disease in which all or part of one X chromosome is missing, resulting in X females or partially XX females. Many characteristic features are associated with Turner syndrome. Most persons with Turner syndrome are not mentally retarded, although they may have learning disabilities, particularly with regard to spatial perception, visual-motor coordination, and mathematics. As a result, the nonverbal IQ in Turner syndrome tends to be lower than the verbal IQ. Links

Williams syndrome is a rare, congenital (present at birth) disorder characterized by physical and developmental problems including an impulsive and outgoing (excessively social) personality, limited spatial skills and motor control, and intellectual disability (i.e., developmental delay, learning disabilities, mental retardation, or attention deficit disorder). Links

Velo-Cardio-Facial syndrome (VCFS) also known as the Shprintzen Syndrome and DiGeorge Sequence is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and many other clinical findings. Links