Speech impairment genetic meaning of

Speech and language impairment are basic categories that might be drawn in issues of communication involve hearing, speech, language, and fluency. A speech impairment is characterized by difficulty in articulation of words.

Examples include stuttering or problems producing particular sounds. Articulation refers to the sounds, syllablesand phonology produced by the individual.

Voicehowever, may refer to the characteristics of the sounds produced—specifically, the pitchquality, and intensity of the sound. Often, fluency will also be considered a category under speech, encompassing the characteristics of rhythmrate, and emphasis of the sound produced. A language impairment is a specific impairment in understanding and sharing thoughts and ideas, i.

Problems that may be experienced can involve the form of language, including grammarmorphologysyntax ; and the functional aspects of language, including semantics and pragmatics.

An individual can have one or both types of impairment. Apraxia of speech is the acquired form of motor speech disorder caused by brain injury, stroke or dementia. Developmental verbal dyspraxia refers specifically to a motor speech disorder. This is a neurological disorder. Individuals suffering from developmental verbal apraxia encounter difficulty saying sounds, syllablesand words.

Genetic Disorders By Dr. Preeti Sharma

The difficulties are not due to weakness of muscles, but rather on coordination between the brain and the specific parts of the body. Interventions are more effective when they occur individually at first, and between three and five times per week. With improvements, children with apraxia may be transitioned into group therapy settings. Therapeutic exercises must focus on planning, sequencing, and coordinating the muscle movements involved in speech production.

Children with developmental verbal dyspraxia must practice the strategies and techniques that they learn in order to improve. In addition to practice, feedback can be helpful to improve apraxia of speech. Tactile feedback touchvisual feedback watching self in mirrorand verbal feedback are all important additions.

In these cases, AAC may be more appropriate. Dysarthria is a motor speech disorder that results from a neurological injury. Some stem from central damage, while other stem from peripheral nerve damage. Difficulties may be encountered in respiratory problems, vocal fold function, or velopharyngeal closure, for example. Orofacial myofunctional disorders refers to problems encountered when the tongue thrusts forward inappropriately during speech.

While this is typical in infants, most children outgrow this. For example, the word, "some," might be pronounced as "thumb". The treatment of OMD will be based upon the professional's evaluation. Thus, the individual interventions will vary. Some examples include:.

speech impairment genetic meaning of

Speech sound disorders may be of two varieties: articulation the production of sounds or phonological processes sound patterns. An articulation disorder may take the form of substitution, omission, addition, or distortion of normal speech sounds.

Genetics and Speech Disorders

Phonological process disorders may involve more systematic difficulties with the production of particular types of sounds, such as those made in the back of the mouth, like "k" and "g". Naturally, abnormalities in speech mechanisms would need to be ruled out by a medical professional. Therapies for articulation problems must be individualized to fit the individual case.Angelman syndrome is a complex genetic disorder that primarily affects the nervous system.

Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance ataxia.

Most affected children also have recurrent seizures epilepsy and a small head size microcephaly. Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements.

speech impairment genetic meaning of

Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual. With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve.

However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as " coarse. The life expectancy of people with this condition appears to be nearly normal. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. People normally inherit one copy of the UBE3A gene from each parent.

Both copies of this gene are turned on active in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother the maternal copy is active. This parent-specific gene activation is caused by a phenomenon called genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain. Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene.

Most cases of Angelman syndrome about 70 percent occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases about 11 percentAngelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene. In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father paternal copies instead of one copy from each parent.

This phenomenon is called paternal uniparental disomy.

speech impairment genetic meaning of

Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene.

These genetic changes can abnormally turn off inactivate UBE3A or other genes on the maternal copy of chromosome The causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals.

Changes involving other genes or chromosomes may be responsible for the disorder in these cases. In some people who have Angelman syndrome, the loss of a gene called OCA2 is associated with light-colored hair and fair skin. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this disorder.

However, loss of the OCA2 gene does not cause the other signs and symptoms of Angelman syndrome. The protein produced from this gene helps determine the coloring pigmentation of the skin, hair, and eyes. Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells eggs and sperm or in early embryonic development.

Affected people typically have no history of the disorder in their family. Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next. Genetics Home Reference has merged with MedlinePlus. Learn more.

Angelman syndrome

The resources on this site should not be used as a substitute for professional medical care or advice.You have determined that your child has more than just a speech delay, now what? How do you determine what kind of speech disorder your child has and more importantly, what do you do about it? We have listed below five common speech disorders in children.

Of course, we always recommend a visit to your pediatrician if you feel your child has any of these symptoms, and an appointment with an SLP may be necessary to begin an effective speech therapy treatment plan. Articulation Disorder: An articulation disorder is a speech sound disorder in which a child has difficulty making certain sounds correctly.

Sounds may be omitted or improperly altered during the course of speech. If the errors persist past a standard developmental age, which varies based on the sound, then that child has an articulation disorder. Apraxia of Speech is a communication disorder affecting the motor programming system for speech production. Speech production is difficult — specifically with sequencing and forming sounds. The person may know what he wants to say, but there is a disruption in the part of the brain that sends the signal to the muscle for the movement necessary to produce the sound.

That leads to problems with articulation as well as intonation and speaking stress and rhythm errors.

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Apraxia of Speech can be discovered in childhood CASor might be acquired AOS resulting from a brain injury or illness in both children and adults.

It also affects girls, though their symptoms tend to be milder. If a child received a pre-mutated X chromosome from one of his parents as a carrierthen he is at greater risk of developing FXS.

Few outward signs are noticeable within the first 9 months. These signs may include an elongated face and protruding eyes. Intellectual disabilities, speech and language problems, and social anxiety occur most frequently in children with Fragile X.

Speech symptoms include repetition of words and phrases, cluttered speech and difficulties with the pragmatics of speech. Stuttering occurs when speech is disrupted by involuntary repetitions, prolonging of sounds and hesitation or pausing before speech.

Dysgraphia

Stuttering can be developmental, meaning it begins during early speech acquisition, or acquired due to brain trauma. No one knows the exact causes of stuttering in a child. It is considered to have a genetic basis, but the direct link has not yet been found. Children with relatives who stutter are 3 times as likely to develop stuttering. A child who stutters is typically not struggling with the actual production of the sounds—stress and a nervousness trigger many cases of stuttering.

Stuttering is variable, meaning if the speaker does not feel anxious when speaking, the stuttering may not affect their speech.

Children with Expressive Language Disorder do not have problems producing sounds or words, but have an inability to retrieve the right words and formulate proper sentences. Children with Receptive Language Disorder have difficulties comprehending spoken and written language. Finally, children with Expressive-Receptive Language Disorder will exhibit both kinds of symptoms. Grammar is a hard concept for them to understand and they may not use of articles a, theprepositions of, with and plurals.

They may not understand you or the fact that you asked them to do something. These are some of the most common speech disorders in children.

No child is the same and you know your child best. If you feel that your child has a speech disorder, contact your pediatrician to discuss treatment options. Five Common Speech Disorders in Children.

What Are Communication Disorders?Maybe you get your brown hair from your dad and your blue eyes from your mom. But did you ever consider that perhaps your speech and language patterns are also inherited?

Advancements in medical and scientific research have increasingly been revealing that you can also inherit susceptibility to speech disordersjust like you might inherit increased risks for diabetes or other medical conditions.

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.

There are several specific types of speech and language disorders that appear to be closely tied with genetics. Scientists have begun identifying specific genes that are responsible for the ways we speak and communicate. In scientists from the U. Researchers have also found genetic links with other genes to stuttering, speech-sound disorder, and developmental verbal dyspraxia DVD.

Just like so many aspects of life, the more you know, the more you can do. Perhaps genetics are the reason why several of your cousins have speech disorders. Understanding family medical history can help you make better decisions about preventative care and speech therapy. There are many causes of speech and language disordersand scientists are only beginning to scratch the surface when it comes to genetics and speech disorders.

If you or your child struggle with communication, talk with your healthcare provider, a speech therapist, and other qualified individuals. Genetics and Speech Disorders by Chris O.

Image Courtesy of futurity. Image Courtesy of pubpages. Image Courtesy of fragilex.This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures.

They can direct you to research, resources, and services. Inclusion on this list is not an endorsement by GARD. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand.Skip to main content. Specific language impairment is one of the most common developmental disorders, affecting approximately 7 to 8 percent of children in kindergarten. Specific language impairment SLI is a communication disorder that interferes with the development of language skills in children who have no hearing loss or intellectual disabilities.

speech impairment genetic meaning of

SLI is also called developmental language disorder, language delay, or developmental dysphasia. It is one of the most common developmental disorders, affecting approximately 7 to 8 percent of children in kindergarten. The impact of SLI usually persists into adulthood.

The cause of SLI is unknown, but recent discoveries suggest that it has a strong genetic link. Children with SLI are more likely than those without SLI to have parents and siblings who have also had difficulties and delays in speaking.

In fact, 50 to 70 percent of children with SLI have at least one family member with the disorder. Learning more than one language at a time does not cause SLI. The disorder can, however, affect both multilingual children and children who speak only one language.

A child with SLI often has a history of being a late talker reaching spoken language milestones later than peers. Although some late talkers eventually catch up with peers, children with SLI have persistent language difficulties.

Symptoms common in older children and adults with SLI include:. The type of evaluation depends on the child's age and the concerns that led to the evaluation. In general, an evaluation includes:. These tools allow the speech-language pathologist to compare the child's language skills to those of same-age peers, identify specific difficulties, and plan for potential treatment targets. SLI is not the same thing as a learning disability. Instead, SLI is a risk factor for learning disabilities, since problems with basic language skills affect classroom performance.

This means that children with SLI are more likely to be diagnosed with a learning disability than children who do not have SLI. They may struggle with translating letters into sounds for reading.

Their writing skills may be weakened by grammatical errors, limited vocabulary, and problems with comprehension and organizing thoughts into coherent sentences. Difficulties with language comprehension can make mathematical word problems challenging.

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Some children with SLI may show signs of dyslexia. By the time they reach adulthood, people with SLI are six times more likely to be diagnosed with reading and spelling disabilities and four times more likely to be diagnosed with math disabilities than those who do not have SLI.

SLI is a developmental disorder, which means that its symptoms first appear in childhood. This does not mean that, as children develop, they grow out of the problem. Instead, the problem is apparent in early childhood and will likely continue, but change, with development. For instance, a young child with SLI might use ungrammatical sentences in conversation, while a young adult with SLI might avoid complex sentences in conversations and struggle to produce clear, concise, well-organized, and grammatically accurate writing.

Early treatment during the preschool years can improve the skills of many children with language delays, including those with SLI. Children who enter kindergarten with significant language delays are likely to continue having problems, but they and even older children can still benefit from treatment. Many adults develop strategies for managing SLI symptoms.Dysgraphia is a deficiency in the ability to write, primarily handwritingbut also coherence.

The DSM is not clear in whether or not writing refers only to the motor skills involved in writing, or if it also includes orthographic skills and spelling. There are at least two stages in the act of writing: the linguistic stage and the motor-expressive- praxic stage. The linguistic stage involves the encoding of auditory and visual information into symbols for letters and written words.

This is mediated through the angular gyruswhich provides the linguistic rules which guide writing. The motor stage is where the expression of written words or graphemes is articulated. This stage is mediated by Exner's writing area of the frontal lobe. People with dysgraphia can often write on some level and may experience difficulty with other fine motor skillssuch as tying shoes. However, dysgraphia does not affect all fine motor skills. People with dysgraphia often have unusual difficulty with handwriting and spelling [2] which in turn can cause writing fatigue.

The disorder generally emerges when the child is first introduced to writing. Dysgraphia should be distinguished from agraphiawhich is an acquired loss of the ability to write resulting from brain injurystrokeor progressive illness. Dysgraphia is nearly always accompanied by other learning disabilities such as dyslexia or attention deficit disorder[2] [7] [8] and this can impact the type of dysgraphia a person might have.

There is little information available about different types of dysgraphia and there are likely more subtypes than the ones listed below. Some people may have a combination of two or more of these, and individual symptoms may vary in presentation from what is described here. People with dyslexic dysgraphia have illegible spontaneously written work.

Their copied work is fairly good, but their spelling is usually poor. Their finger tapping speed a method for identifying fine motor problems is normal, indicating that the deficit does not likely stem from cerebellar damage. A Dyslexic Dysgraphic does not necessarily have dyslexia dyslexia and dysgraphia appear to be unrelated. Motor dysgraphia is due to deficient fine motor skillspoor dexterity, poor muscle toneor unspecified motor clumsiness.

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Letter formation may be acceptable in very short samples of writing, but this requires extreme effort and an unreasonable amount of time to accomplish, and it cannot be sustained for a significant length of time, as it can cause arthritis -like tensing of the hand. Overall, their written work is poor to illegible even if copied by sight from another document, and drawing is difficult. Oral spelling for these individuals is normal, and their finger tapping speed is below normal. This shows that there are problems within the fine motor skills of these individuals.

People with developmental coordination disorder may be dysgraphic. Writing is often slanted due to holding a pen or pencil incorrectly. A person with spatial dysgraphia has a defect in the understanding of space.

They will have illegible spontaneously written work, illegible copied work, and problems with drawing abilities. They have normal spelling and normal finger tapping speed, suggesting that this subtype is not fine motor based.

Symptoms in actuality may vary in presentation from what is listed here. The symptoms to dysgraphia are often overlooked or attributed to the student being lazy, unmotivated, not caring, or having delayed visual-motor processing. In order to be diagnosed with dysgraphia, one must have a cluster, but not necessarily all, of the following symptoms: [2]. Dysgraphia may cause students emotional trauma often due to the fact that no one can read their writing, and they are aware that they are not performing to the same level as their peers.

Emotional problems that may occur alongside dysgraphia include impaired self-esteemlowered self-efficacyheightened anxietyand depression. Dysgraphia is a hard disorder to detect as it does not affect specific ages, gender, or intelligence.

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