Tag Archives: ataxia

Angleman Syndrome and Adulthood

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Angelman syndrome is a genetic disorder that affects the nervous system. Characteristics include developmental delays, intellectual disabilities, epilepsy, short attention span, hyperactivity, hand flapping and speech impairments. It is a rare disorder that affects 1 in 12,000 to 20,000 a year. there are less than 200,000 cases a year and affects all ethnicities and sexes equally.

Typically, there is a severe developmental delay and learning disability as well as near absence of speech and ataxia including ataxia including jerky movements of the arms and legs. People with Angelman syndrome generally have a happy demeanor and an inappropriate laughter.

Life expectancy appears to be normal. As people with Angelman syndrome age, scoliosis tends to worsen and for many people born with epilepsy, there are cases where seizures stop, however, they tend to return as the person gets older.

 

Due to cognitive and medical needs, a person with Angelman syndrome will always require support. Most people with Angelman syndrome attend a day habilitation setting. Support should include

  • staff trained on identifying seizures and providing assistance
  • programs that support the person’s short attention span
  • evaluation for a communication device or a means to communicate
  • support for self-injurious behavior

The following are resources and articles on Angelman syndrome and adulthood

Angelman Syndrome and Obesity (Angelman Syndrome) A 2017 study reporting on a third of Angelman syndrome patients were overweight or obese.

Angelman Syndrome in Adults– (Angelman Syndrome News). An article that describes signs and symptoms of individuals with Angelman Syndrome as they approach adulthood

Anxiety in Angelman Syndrome (Angelman Syndrome News). A topic on anxiety which is commonly observed in individuals with Angelman syndrome including information on triggers and ways to manage anxiety.

AS in Adulthood (AngelmanUKorg). A website describing the transition to adulthood and issues affecting people with Angelman syndrome.

Dental Problems in Angelman Syndrome (Angelman Syndrome News). Information on how people with Angelman Syndrome may be affected and possible treatment plans.

Transitioning to Adulthood Checklist. Created by the Angelman Syndrome Foundation, provides a 4-page checklist resource for students preparing to transition out of school.

Facts and Statistics- Ataxia

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Ataxia is a rare disorder that affects both children and adults. I was quite surprise to find that very little statistics have been conducted on ataxia. this may be due to the understanding that Ataxia is not a specific disorder, rather, a condition can cause ataxia including multiple sclerosis, head trauma, cerebral palsy and infections.

Ataxia affects a child’s coordination, balance and speech while some children are born with ataxia as a result of genetics, others develop it in a progressive matter. Signs and symptoms of Acute Cerebellar Ataxia include:

  • Frequent stumbling
  • Impaired coordination affecting arms or legs
  • Unsteady gait
  • Uncontrolled eye movement
  • Difficulty performing fine motor task
  • headaches

The following are facts and statistics on the Ataxia disorder:

  • It is a degenerative disease of the nervous system
  • Symptoms, often mimic being drunk in adults such as slurred speech
  • Age of symptom can vary from childhood to late adulthood
  • rare recessive genetic disorder
  • occurs between 1 out of 40,000 and 1 out of 100,000
  • The word ataxia refers to clumsiness or a loss of balance and coordination
  • The ataxia gene was first identified in 1993
  • Ataxia is inherited
  • Ataxia is a sign of an underlying disorder
  • It is caused by damage to different areas of the central nervous system
  • The most common symptom in children is an unsteady gait
  • In some cases, ataxia can present itself rapid while in others, it is progressive.
  • The most common cause of acute ataxia in children are excessive drug ingestion and drug intoxications
  • There are from 50 to 100 different types of Ataxia.

Speech-language Pathology and Adult Services

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Guest Blogger, Anne Marie Pineiro, M.A. CCC-SLP, 

Speech-language Pathologists serve individuals, families, and groups from diverse

linguistic and cultural backgrounds. Services are provided based on applying the

best available research evidence, using expert clinical judgments, and considering

clients’ individual preferences and values. Speech-language pathologists address

typical and atypical communication and swallowing in the following areas:

–pragmatics (language use, social aspects of communication)

-literacy (reading, writing, spelling)

– prelinguistic communication (e.g., joint attention, intentionality, communicative signaling)

–paralinguistic communication

  • cognition- attention,  memory,  sequencing,  problem solving,  executive functioning
  • feeding and swallowing- 4 phases of swallowing

-oral, pharyngeal, laryngeal, esophageal

–orofacial myology (including tongue thrust)

-oral-motor functions

Source:   http://www.asha.org/uploadedFiles/SP2007-00283.pdf

In providing services to those Adults diagnosed with a variety of Developmental Disabilities, the SLP’s role may become much more defined, focusing on what is most functional to an individual in the areas of speech, receptive and expressive language (verbal or non-verbal communication) and feeding/ swallowing.  Very often we are attempting to assess and/or maintain an individual’s current level of functioning in the above areas and to train all those involved in the care of that individual in the strategies and implementation of them to achieve that goal.  In our Agency, for example, we break the assessment down into the following areas in order to develop functional and measurable outcomes:

Speech

  1. Does the individual use speech functionally to communicate wants/needs in a variety of settings?
  2. If so, is their speech understood by all, some, few communicative partners?  Are there any strategies a person might use to increase his/her intelligibility- modifying volume, rate, resonance, increasing fluency, etc.?  Does the person use Augmentative Communication to supplement speech when he/she cannot be understood e.g. low/high tech communication device, writing, American Sign Language, Picture Language Board, etc.

Language

  1. Receptive language (Language comprehension) including attention to objects, using objects functionally, identification of objects and/or pictures, comprehending one, two or three-step oral directives, vocabulary, comprehension of attributes and spatial relationships, or auditory comprehension on the word, sentence and paragraph levels.  Is comprehension on the literal or inferential levels?
  2. Expressive language- (Language expression)- for those who are verbal, the MLU (mean length of utterance) is assessed.  For non-verbal individuals, language expression can be in the form of pointing to one or two picture symbols consecutively on a picture language communication board or AAC device, writing or typing single words, phrases, sentences or paragraphs on paper, computer or AAC device.

-AAC device assessments for nonverbal individuals take into account the individual’s cognitive skills, physical abilities in order to access the device (direct selection with hand or finger, eye gaze, head pointer, switch/scanning, etc.), receptive and expressive language skills, communicative intent and pragmatic language abilities, and literacy.  All those involved in the individual’s care play an extremely important role in whether or not someone may receive an AAC device since they will be the ones to set up/take down the device and provide basic maintenance for the device, including programming, charging, etc.

Feeding and Swallowing:

Many people wonder why an SLP would be the one to review an individual’s mealtime plan or protocol.  ASHA guidelines state it best: “The speech-language pathologist is a primary professional involved in assessment and management of individuals with swallowing and feeding disorders. These areas include:

  • Performing clinical swallowing and feeding evaluation;
  • Performing instrumental assessment of swallowing function with medical professionals as appropriate;
  • Identifying normal and abnormal swallowing anatomy and physiology;
  • Identifying signs of possible or potential disorders in upper aerodigestive tract swallowing and making referrals to appropriate medical personnel;
  • Making decisions about management of swallowing and feeding disorders;
  • Developing treatment plans;
  • Providing treatment for swallowing and feeding disorders, documenting progress, and determining appropriate dismissal criteria;
  • Providing teaching and counseling to individuals and their families;
  • Educating other professionals on the needs of individuals with swallowing and feeding disorders and the speech-language pathologists’ role in the diagnosis and management of swallowing and feeding disorders;
  • Serving as an integral part of a team as appropriate;
  • Advocating for services for individuals with swallowing and feeding disorders;
  • Advancing the knowledge base through research activities.

In addition, Speech-language pathologists have extensive knowledge of anatomy, physiology, and functional aspects of the upper aerodigestive tract for swallowing and speech across the age spectrum including infants, children, and adults (including geriatrics). The upper aerodigestive tract includes oral, pharyngeal, and cervical esophageal anatomic regions. Speech-language pathologists also have extensive knowledge of the underlying medical and behavioral etiologies of swallowing and feeding disorders. In addition, they have expertise in all aspects of communication disorders that include cognition, language, and behavioral interactions, many of which may affect the diagnosis and management of swallowing and feeding disorders.”

Source: http://www.asha.org/policy/TR2001-00150/#sec1.3

The dysphagia and feeding disorders that are seen in adults with developmental disability include poorly developed and absent feeding and oral preparation skills and competencies, physiological and anatomical impairments that degrade oral-pharyngeal and esophageal bolus motility, and disruptive or maladaptive mealtime behaviors. Nutrition, hydration, saliva management, ingestion of medications, and management of the oral hygiene bolus may be involved. Upper airway obstruction (choking), aspiration, malnutrition, and dehydration may result from the disorder (Rogers et al., 1994, Sheppard et al., 1988).  Source: http://www.asha.org/policy/TR2001-00150/#sec1.3

Therefore, in our Agency that serves Adults with Developmental Disabilities, the SLP works as one member of the Team, including the Occupational Therapist, Physical Therapist, Nurse, Residential Team and Family Members to create a mealtime protocol or plan which simply states the best way to maximize nutrition while at the same time attempting to decrease incidents of choking (partial or complete blockage of the airway) or aspiration (food or liquid making its way into the lungs which can lead to aspiration pneumonia).  These plans are developed so that all involved in the individual’s care may be informed of the best feeding practices for that individual which include: adaptive mealtime equipment (any cup spoon, plate, straw, etc. used for an individual to improve ability to eat independently and to improve oral-motor control), positioning in chair or wheelchair, degrees of assistance needed for self-feeding, food and liquid consistencies, food allergies and intolerances, the presence of any mealtime behaviors, including rapid pace of eating which may increase risk of choking or aspiration, and any specific instructions the caregiver would find useful in feeding the individual or maximizing the individual’s ability to feed themselves.

I hope you find this information helpful in identifying the SLP’s role in providing services to adults with Developmental Disabilities.

This information is in no way intended to serve as a complete guide in this area, but is meant to simply assist in identifying ways the SLP works as part of the Interdisciplinary Team in serving adults with developmental disabilities in a day habilitation setting