Lesser Known Disorders
Each issue of this series contains at least three lesser known disorders. Some of these disorders may contain subtypes which will also be presented. You will also notice that each disorder has a code. These codes represent the coding system for all disabilities and disorders listed in the Educator’s Diagnostic Manual(EDM) Wiley Publications.
SL 5.00-Voice Disorders (Dysphonia)
Disability Category- Speech and Language Impaired
Definition
Voice (or vocalization) is the audible sound produced by passage of air through the larynx (Melfi & Garrison, 2004). Voice is not always produced as speech, however. Infants babble and coo; animals bark, moo, whinny, growl, and meow; and adult humans laugh, sing, and cry. Voice is generated by airflow from the lungs as the vocal folds are brought close together.
When air is pushed past the vocal folds with sufficient pressure, the vocal folds vibrate. If the vocal folds in the larynx did not vibrate normally, speech could only be produced as a whisper. An individual’s voice is as unique as your fingerprint. It helps define one’s personality, mood, and health (National Institute on Deafness and Other Communication Disorders, 2002f).
Voice disorders are a group of problems involving abnormal pitch, loudness, or quality of the sound produced by the larynx (voice box). (University of Virginia, 2004). Approximately 7.5 million people in the United States have trouble using their voices. Disorders of the voice involve problems with pitch, loudness, and quality. Pitch is the highness or lowness of a sound based on the frequency of the sound waves. Loudness is the perceived volume (or amplitude) of the sound, while quality refers to the character or distinctive attributes of a sound. Many people who have normal speaking skills have great difficulty communicating when their vocal apparatus fails. This can occur if the nerves controlling the larynx are impaired because of an accident, a surgical procedure, a viral infection, or cancer (National Institute on Deafness and Other Communication Disorders, 2002f).
Many people who have acquired normal speaking skills become communicatively impaired when their vocal apparatus fails. This can occur if the nerves controlling the functions of the larynx are impaired as a result of an accident, a surgical procedure, or a viral infection (Psychology Today, 2005).
Diagnostic Symptoms
Common symptoms of a voice disorder include (Lahey Clinic Foundation, 2005; Psychology Today, 2005):
- Breathy vocal quality
- Chronic cough or excessive throat clearing
- Decreased breath support during speech
- Deviations in the loudness of voice
- Diplophonic (double-toned) quality
- Hoarseness
- Inability to speak loudly
- Loss of voice
- Quality deviations
- Reduced pitch range or sudden change in overall pitch –Pitch deviations
- Sudden or gradual change in overall vocal quality
- Tremulous quality in the voice
- Vocal strain or fatigue
Further Key Points
A voice is termed “disordered” when the vocal quality of an individual is altered/changed in such a way that it is thought to be abnormal to the listener. The onset and development of these disorders can be “sudden” or “slow.” Examples of characteristics of sudden onset may be: trauma, infection, CVA, injurious inhalation, intubation, conversion reaction, or a severe allergic reaction. Degenerative neurologic disease, musculo-skeletal tension, vocal abuse and misuse, growths of folds, gastro-esophageal reflux, and chronic allergies may characterize slow onset (Murray State University, 2005).
Researchers suggest that there are two specific categories of voice disorders: (1) Functional Voice Disorders and (2) Organic Voice Disorders. Organic voice disorders are those disorders that do have a known cause. Functional disorders encompass all disorders that result in physical change, but do not have a known cause (Murray State University, 2005)
In sum, voice typically is defined by the elements of pitch (frequency), loudness (intensity), and quality (complexity). By varying the pitch, loudness, rate, and rhythm of voice (prosody), the speaker can convey additional meaning and emotion to words. A voice disorder exists when the quality, pitch, or volume differs from that of other persons of similar age, culture, and geographic location (Melfi & Garrison, 2004).
Types of Voice Disorders (Dysphonia)
SL 5.01-Muscle Tension Dysphonia
Definition
A type of voice disorder specifically associated with strained, effortful phonation usually causing vocal fatigue if used extensively (Columbia University College of Physicians and Surgeons, 2005)
Explanation
Muscle tension dysphonia is characterized by the vocal folds typically failing to come completely together because two muscles are pulling in opposite directions simultaneously. The vocal folds have the capacity and ability to assume the correct position for a task, but do not because they are pulling against one another in an inefficient fashion. This is most likely a learned behavior (Thomas, 2004).
SL 5.01a-Primary Muscle Tension Dysphonia
A type of vocalizing or speaking in which the muscles in the neck are tense and when no other lesion or paralysis is seen (Columbia University College of Physicians and Surgeons, 2005).
SL 5.01b-Secondary Muscle Tension Dysphonia
A compensatory method of vocalizing due either to a paralysis, paresis or muscular weakness causing the person to squeeze other parts of the larynx to help produce sound (Columbia University College of Physicians and Surgeons, 2005).
SL 5.02-Resonance Disorders
Definition
A type of voice disorder specifically associated with sound quality of speech. Resonance is defined as the vocal quality associated with the vibration of air in the oral and nasal cavities (American Cleft Palate-Craniofacial Association, 2004).
Explanation
A voice with a resonance disorder suffers from either too many sounds coming out through the air passages of the nose (hypernasality) or, conversely, not enough resonance of the nasal pages (hyponasality).
SL 5.02a-Hypernasality Resonance Disorder (4)
Hypernasality resonance disorder occurs when too much air passes through the nasal cavities during production of sounds, giving the speaker a distinctive nasal quality or “twang.” Hypernasality is a speech disorder occurring when the palate and pharynx tissues do not close properly. This inadequate closure causes air to escape through the nose during speech instead of coming out of the sides and back of the throat, particularly with certain sounds such as “p,” “b,” “s,” and “k.” (American Academy of Otalaryngology, 2002).
Hypernasality is the most common resonance disorder in children. It occurs most frequently in children born with a cleft palate or other craniofacial anomalies (Children’s Hospital of New York, 2005).
In children, hypernasality can occur after cleft palate surgery, from a deformation of the face (such as Down Syndrome), or from neurologic problems. This condition rarely occurs after surgery to remove the adenoids and in otherwise healthy children. It can also be a learned behavior (American Academy of Otalaryngology, 2002). Hypernasality is often found in children with motor-based speech disturbances. Sluggish movements of the lips, tongue or soft palate can result in airflow which is directed more toward the nasal cavity (Children’s Hospital Medical Center of Akron, 2004).
SL 5.02b-Hyponasality Resonance Disorder
Hyponasality Resonance Disorder occurs when too much air passes through the nasal cavities during production of sounds. Nasal congestion from a cold or allergies or sometimes enlarged adenoids cause hyponasality (Children’s Hospital Medical Center of Akron, 2004). The speaker may sound as if his or nose is being held or has a cold.
SL 5.03-Spasmodic Dysphonia (Laryngeal Dystonia)
Definition
A type of neurological voice disorder specifically associated with involuntary “spasms” of the vocal cords causing interruptions of speech and affecting the voice quality. Spasmodic Dysphonia can cause the voice to break up or to have a tight, strained, or strangled quality (National Spasmodic Dysphonia Association, 2000).
Explanation
Spasmodic dysphonia (or laryngeal dystonia) is a neurological voice disorder that involves involuntary “spasms” of the vocal cords causing interruptions of speech and affecting the voice quality. It can cause the voice to break up or have a tight strained, or strangled quality (National Spasmodic Dysphonia Association, 2000). Individuals who have spasmodic dysphonia may have occasional difficulty saying a word or two or they may experience sufficient difficulty to interfere with communication. Spasmodic dysphonia causes the voice to break or to have a tight, strained or strangled quality.
SL 5.03a-Adductor Spasmodic Dysphonia
In adductor spasmodic dysphonia, sudden involuntary muscle movements or spasms cause the vocal folds (or vocal cords) to slam together and stiffen. These spasms make it difficult for the vocal folds to vibrate and produce voice. Words are often cut off or difficult to start because of the muscle spasms. Therefore, speech may be choppy and sound similar to stuttering (Baylor College of Medicine, 2006; National Institute on Deafness and Other Communication Disorders, 2002)
SL 5.03b-Abductor Spasmodic Dysphonia
In abductor spasmodic dysphonia, sudden involuntary muscle movements or spasms cause the vocal folds to open. The vocal folds can not vibrate when they are open. The open position of the vocal folds also allows air to escape from the lungs during speech. As a result, the voices of these individuals often sound weak, quiet and breathy or whispery (Baylor College of Medicine, 2006; National Institute on Deafness and Other Communication Disorders, 2002)
SL 5.03c-Mixed Spasmodic Dysphonia
Mixed spasmodic dysphonia involves muscles that open the vocal folds as well as muscles that close the vocal folds and therefore has features of both adductor and abductor spasmodic dysphonia (National Institute on Deafness and Other Communication Disorders, 2002)
OI 1.00 – Bone Diseases
Disability Category – Orthopedic Impairment
Definition
Bone diseases are any of the diseases and injuries that affect human bones (National Resource Center of the National Institutes of Health, 2005)
Diagnostic Symptoms
Diseases and injuries of bones are major causes of abnormalities of the locomotor system. Although physical injury, causing fracture, dominates over disease, fracture is but one of several common causes of bone disease, and disease, in fact, is a common cause of fracture. Each disorder will have specific symptoms so a generalized list of symptoms is not made.
Further Key Points
Bone is living tissue that provides shape and support for the body, as well as protection for some organs. Bone also serves as a storage site for minerals and provides the medium—marrow—for the development and storage of blood cells.
Because the functions of bone are numerous and complex, there are many disorders that require clinical care by a physician or other healthcare professional. These conditions include benign (non-cancerous) disorders, cancers that occur in bone, and cancers that affect bone (University of Virginia Health Systems, 2005).
Types of Bone Diseases
OI 1.01 Fibrous Dysplasia
Definition
Fibrous dysplasia is a chronic disorder in which bone expands due to abnormal development of fibrous tissue, often resulting in one, or more, of the following:
- uneven growth of bones
- pain
- brittle bones
- bone deformity (University of Maryland Medical System 2003)
Some patients have only one bone affected (monostotic), whereas other patients have numerous bones affected (polyostotic) (NIH Osteoporosis and Related Bone Diseases, 2000).
Explanation
The following are the most common symptoms for fibrous dysplasia. However, each individual may experience symptoms differently. Symptoms may include:
- a waddling walk
- bone pain (as a consequence of the expanding fibrous tissue in the bone)
- bone deformity
- bone pain
- bone fractures
- scoliosis—a lateral, or sideways, curvature and rotation of the back bones (vertebrae), giving the appearance that the person is leaning to one side.
The symptoms of fibrous dysplasia may resemble other bone disorders or medical problems. Always consult your physician for a diagnosis (U.S. National Library of Medicine, 2003a; University of Maryland Medical Center, 2003).
OI 1.02 Klippel-Feil Syndrome
Definition
Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development (National Institute of Neurological Disorders and Stroke, 2005e).
Type I is described as a massive fusion of the cervical spine. Type II is present when the fusion of 1 or 2 vertebrae occurs. Type III occurs when thoracic and lumbar spine anomalies are associated with type I or type II Klippel-Feil syndrome (Klippel & Feil, 1975).
Explanation
The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers (National Institute of Neurological Disorders and Stroke, 2005e).
OI 1.03 Marfan syndrome
Definition
Marfan syndrome is inherited as an autosomal dominant trait. However, up to 30% of cases have no family history and are so-called “sporadic” cases. In sporadic cases, Marfan syndrome is believed to result from a spontaneous new mutation. Marfan syndrome is caused by mutations in the gene fibrillin-1. Fibrillin-1 plays an important role as the scaffolding for elastic tissue in the body.
Disruption of such scaffolding (by mutations in fibrillin-1) results in changes in elastic tissues, particularly in the aorta, eye, and skin. Mutations in fibrillin-1 also cause overgrowth of the long bones of the body, resulting in the tall stature and long limbs seen in Marfan patients (U.S. National Library of Medicine, 2005c).
Explanation
A matter of debate among medical historians is whether Abraham Lincoln had Marfan syndrome, an inherited connective tissue disorder. Lincoln’s famously gaunt appearance is far from definitive proof, but he did have certain physical traits commonly associated with the disease. These include an extremely tall, slender build, a narrow face, loose joints, and spinal or chest wall abnormalities.
Signs and symptoms of Marfan syndrome can vary greatly from person to person. The disorder affects connective tissue—the fibers that provide the framework and support for your body. As a result, Marfan syndrome can harm many different body systems, including your heart and blood vessels, eyes, skin and skeleton. In some cases, the damage may be relatively mild, but in others, it can be severe (Mayo Clinic, 2004a).
OI 1.04 McCune-Albright Syndrome
Definition
McCune-Albright syndrome is a genetic disease affecting the ones and pigmentation of the skin, which also causes hormonal problems and premature sexual development (U.S. National Library of Medicine, 2004g).
Explanation
Symptoms of McCune-Albright include:
- Irregular, patchy cafe-au-lait spots, especially on the back
- Vaginal bleeding (first menstruation) at a very early age
- Premature puberty
- early breast development
- early pubic and armpit hair development
- Some patients get more broken bones
- Rarely, a form of gigantism (overgrowth of the body caused by excess hormones)
OI 1.05 Osteogenesis imperfecta (OI)-Brittle Bone Disease
Definition
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized forms of the disorder, representing a range of severities. For example, a person may have just a few or as many as several hundred fractures in a lifetime (National Institute of Arthritis and Musculoskeletal and Skin Diseases, 2004).
Explanation
This inherent weakness of the bones is due to a malfunction in the body’s production of the protein collagen. Collagen, of which there are at least ten identifiable subtypes, is found in the connective tissues of the body and make up a large portion of the bones and cartilage. It is the substance that holds the tissues together, providing strength and mass to the bones. For a person with OI, either the amount of collagen being produced is too little, or the quality being produced is poor. Either way, the bones of a person with OI are less dense and break easily. It is estimated that OI affects between 20,000 and 50,000 people in the United States (Cleveland Clinic, 2004).
At least four types of OI have been identified:
OI 1.05a Type I Osteogenesis imperfecta
Type I is the most common form of OI. People with this type of the disease tend to fracture easily and exhibit other features, such as blue sclera, hearing loss, a triangular face, spinal curvature, and dental problems.
OI 1.05b Type II Osteogenesis imperfecta
Type II, though less common, is a very severe form of the disease. Newborns with Type II often fracture before birth and usually die shortly after birth.
OI 1.05c Type III Osteogenesis imperfecta
Individuals with Type III OI tend to be very small in stature, experience hearing loss at a young age, and have a barrel-shaped rib cage.
OI 1.05d Type IV Osteogenesis imperfecta
Type IV OI individuals tend to fracture easily and often have spinal curvature and significant dental problems.
OI 1.06 Osteopetrosis
Definition
Generalized hereditary condition consisting of excessive bone mineralization, resulting in altered stature, frequent fractures, lack of bone marrow hematopoietic function (A hematopoietic stem cell is a cell isolated from the blood or bone marrow that can renew itself, can differentiate to a variety of specialized cells, can mobilize out of the bone marrow into circulating blood, and can undergo programmed cell death, called apoptosis—a process by which cells that are detrimental or unneeded self-destruct), and a tendency for severe osteomyelitis (an acute or chronic bone infection, usually caused by bacteria) of the jaws (Marquette University School of Dentistry, 2001).
Explanation
Osteopetrosis is a congenital disease characterized in each of its forms by defective osteoclast function. Osteoclasts are the cells responsible for bone resorption. They are necessary for the formation of bone marrow. In people with osteopetrosis, osteoclasts do not function normally and the cavity for bone marrow does not form. This causes bones that appear dense on x-ray and cannot resist average stressors and therefore break easily. The condition is quite rare; incidences have been reported at 1 in 20,000–500,000 for the dominant form and 1 in 200,000 for the recessive.
Symptoms include:
- Pain
- Frequent fractures, especially of the long bones, which often do not heal
- Nerve compression, leading to headache, blindness, deafness
- Enlarged spleen
- Osteomyelitis
- Frontal bossing of the skull
- Unusual dentition, including malformed and unerrupted teeth
- Infection
- Bleeding
- Stroke (Osteopetrosis.org, 2002)
There are three major types of osteopetrosis:
OI 1.06a Adult Form
A milder type of osteopetrosis that is found in adults between 20 and 40 years old. This form rarely causes a significant reduction in life expectancy.
OI 1.06b Intermediate Form
A type of osteopetrosis that is less severe than the malignant infantile form. Found in children younger than 10 years old, it is more severe than the adult form of osteopetrosis, but usually does not shorten life expectancy.
OI 1.06c Malignant Infantile Form
A type of osteopetrosis that is very severe. It is inherited when both parents have an abnormal gene that is passed to the child. The disease is apparent from birth and frequently ends in death. Despite its name, the disease is not related to cancer.
OI 1.07 Idiopathic Juvenile Osteoporosis
Definition
Osteoporosis literally means “porous bone.” It is a disease characterized by too little bone formation or excessive bone loss or a combination of both. People with osteoporosis have an increased risk of fractures. It is most common in older people, especially older women.
Osteoporosis is rare in children and adolescents. When it does occur, it is usually caused by an underlying medical disorder or by medications used to treat the disorder. This is called secondary osteoporosis. Sometimes, however, there is no identifiable cause of osteoporosis in a child. This is known as idiopathic osteoporosis(National Institute of Arthritis and Musculoskeltal and Skin Diseases, 2005).
Explanation
Idiopathic juvenile osteoporosis (IJO) is diagnosed after excluding other causes of juvenile osteoporosis (i.e., primary diseases or medical therapies known to cause bone loss, as discussed above). IJO was first identified in the medical literature in 1965 (Dent and Friedman, 1965). Since then, fewer than 100 cases have been reported.
This rare form of osteoporosis typically occurs in previously healthy children just before the onset of puberty (U.S. National Library of Medicine, 2003b). The average age of onset is between 8 and 14 years, but it may also occur in younger children during periods of rapid growth. The most notable feature of IJO is that it can remit within two to four years.
OI 1.08 Renal Osteodystrophy
Definition
The medical term “renal” describes things related to the kidneys. Renal osteodystrophy is a bone disease that occurs when the kidneys fail to maintain the proper levels of calcium and phosphorus in your blood. It’s a common problem in people with kidney disease and affects 90 percent of dialysis patients (National Kidney and Urologic Diseases Information Clearinghouse, 2005).
Explanation
Renal osteodystrophy is most serious in children because their bones are still growing. The condition slows bone growth and causes deformities. One such deformity occurs when the legs bend inward toward each other or outward away from each other; this deformity is referred to as “renal rickets.” Another important consequence is short stature. Symptoms can be seen in growing children with renal disease even before they start dialysis (National Kidney and Urologic Diseases Information Clearinghouse, 2005).
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