High Match Mental Retardation X
FRAXE mental retardation is a form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior . FRAXE is associated with a fragile site on chromosome Xq28 and is the cause of nonsyndromic X-linked mental retardation in 1 of 50,000 newborn males. The disorder can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene .
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE Is also known as fraxe mental retardation syndrome intellectual disability associated with fragile site fraxe
MENTAL RETARDATION, X-LINKED 9 MRX9 Is also known as mental retardation, x-linked 44 mrx44
What Is Early Identification
It is estimated that 2% of all children born each year will have a disabling condition. Many of these children will have speech and or language delays and disorders that may have a significant effect on personal, social, academic, or vocational life. Although some children will develop normal speech and language skills without treatment by the time they enter school, it is important to identify those who will not.
Many people falsely believe that speech-language treatment cannot and should not begin until a child begins to talk. Yet research has shown that children know a great deal about their language even before the first word is said. For example, children can distinguish between their native language and a foreign language, use different nonverbal utterances to express different needs, and imitate different patterns of speech through babbling.
Early identification includes the evaluation and treatment provided to families and their children under 3 years old who have, or are at risk for having, a disability, or delay in speech, language or hearing. A child can quickly fall behind if speech and language learning is delayed. Early identification increases the chances for improving communication skills.
What Causes Physical Disability
A physical disability may be congenital or acquired later on in life after brain damage, injury or a stroke. Some disorders such as cerebral palsy, dyspraxia and multiple sclerosis cause a physical disability. The degree of difficulty will depend upon the severity of the condition. With regular therapy people can make vast improvements.
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Helping Children Learn Language
Parents and caregivers are the most important teachers during a childs early years. Children learn language by listening to others speak and by practicing. Even young babies notice when others repeat and respond to the noises and sounds they make. Childrens language and brain skills get stronger if they hear many different words. Parents can help their child learn in many different ways, such as
- Responding to the first sounds, gurgles, and gestures a baby makes.
- Repeating what the child says and adding to it.
- Talking about the things that a child sees.
- Asking questions and listening to the answers.
- Looking at or reading books.
- Telling stories.
- Singing songs and sharing rhymes.
This can happen both during playtime and during daily routines.
Parents can also observe the following:
Some languages are visual rather than spoken. American Sign Language uses visual signals, including gestures, facial expressions, and body movement to communicate.
Screening And Early Assessment Of Speech
The American Academy of Pediatrics recommends ongoing surveillance and periodic use of broad-band screening measures at all well-visits. provides information on a number of tools that have high levels of accuracy in detecting speech-language problems and other disabilities. All included measures were standardized on national samples, proven to be reliable, and validated against a range of measures. When used, referral rates to early intervention programs rise to meet prevalence. In the absence of accurate measures, most providers rely on informal milestone checklists. These lack criteria and are probably the leading reason why only about 1 in 4 children with disabilities of any kind are referred for needed assistance.
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Language Delay Speech Disorder Or Developmental Language Disorder
A language delay is different from a speech disorder or developmental language disorder.
A speech disorder is when children have difficulty pronouncing the sounds in words. This can make their speech difficult to understand. Children with a speech disorder might have language skills that are otherwise good. That is, they understand words and sentences well and can form sentences the right way.
If a child has a language delay that doesnt go away, it might be a sign of a developmental language disorder. Children with a developmental language disorder have difficulties understanding and/or speaking. These difficulties affect their everyday lives.
Children with speech disorders dont necessarily have language delay or developmental language disorder. And not all children who have language delay have problems with speech.
Children raised in bilingual families might start off learning their languages more slowly than children speaking only one language. This isnt considered language delay. School-age bilingual children can learn to read and write English just as well as their peers.
What Should You Do
You know your child best. You dont have to wait and see if you think there might be a problem. And you dont have to guess if your child will catch up. You can have your child seen by a speech-language pathologist, or SLP. The SLP will talk to you about your concerns and test how well your child understands, speaks, and uses gestures.
The SLP may give you ideas about how to help your child talk. The SLP may suggest that you come back again if you are still worried in a few months. If your child shows signs of a problem, the SLP may suggest that you talk to an early intervention program. This program can work with you to find ways to help your child communicate better. They can also help if you have any other concerns about your childs development.
Trust your instincts. Find out if your child is a late bloomer or has a language delay. Help is available.
See ASHA information for professionals on the Practice Portals Late Language Emergence page.
To find a speech-language pathologist near you, visit ProFind.
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Language Disorder Or Specific Language Impairment
The condition DSM-5 refers to aslanguage disorder is also referred to asspecific language impairment ,developmental dysphasia, ordevelopmental language disorder. SLI is characterized by a significant discrepancy between the child’s overall cognitive level and functional language level. These children also follow an atypical pattern of language acquisition and use. Closer examination of the child’s skills might reveal deficits in understanding and use of word meaning and grammar . Often, children are delayed in starting to talk. Most significantly, they usually have difficulty understanding spoken language. The problem may stem from insufficient understanding of single words or from the inability to deconstruct and analyze the meaning of sentences. Many affected children show aholistic pattern of language development, repeating memorized phrases or dialog from movies or stories . In contrast to their difficulty with spoken language, children with SLI appear to learn visually and demonstrate their ability on nonverbal tests of intelligence.
After children with SLI become fluent talkers, they are generally less proficient at producing oral narratives than their peers. Their stories tend to be shorter and include fewer propositions, main story ideas, or story grammar elements. Older children include fewer mental state descriptions . Their narratives contain fewer cohesive devices, and the story line may be difficult to follow.
G. Conti-Ramsden, N. Botting, in, 2006
What Should I Do If My Childs Speech Or Language Appears To Be Delayed
Talk to your childs doctor if you have any concerns. Your doctor may refer you to a speech-language pathologist, who is a health professional trained to evaluate and treat people with speech or language disorders. The speech-language pathologist will talk to you about your childs communication and general development. He or she will also use special spoken tests to evaluate your child. A hearing test is often included in the evaluation because a hearing problem can affect speech and language development. Depending on the result of the evaluation, the speech-language pathologist may suggest activities you can do at home to stimulate your childs development. They might also recommend group or individual therapy or suggest further evaluation by an audiologist , or a developmental psychologist .
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Characteristics Of Speech Or Language Impairments
The characteristics of speech or language impairments will vary depending upon the type of impairment involved. There may also be a combination of several problems.
When a child has an articulation disorder, he or she has difficulty making certain sounds. These sounds may be left off, added, changed, or distorted, which makes it hard for people to understand the child.
Leaving out or changing certain sounds is common when young children are learning to talk, of course. A good example of this is saying wabbit for rabbit. The incorrect articulation isnt necessarily a cause for concern unless it continues past the age where children are expected to produce such sounds correctly.
Fluency refers to the flow of speech. A fluency disorder means that something is disrupting the rhythmic and forward flow of speechusually, a stutter. As a result, the childs speech contains an abnormal number of repetitions, hesitations, prolongations, or disturbances. Tension may also be seen in the face, neck, shoulders, or fists.
Voice is the sound thats produced when air from the lungs pushes through the voice box in the throat , making the vocal folds within vibrate. From there, the sound generated travels up through the spaces of the throat, nose, and mouth, and emerges as our voice.
Some characteristics of language disorders include:
- improper use of words and their meanings,
- inability to express ideas,
- reduced vocabulary, and
- inability to follow directions.
Speech And Language Delay Treatment
Your child may not need treatment. Some children just take more time to start talking. But if your child needs treatment, the type will depend on the cause of the speech delay. Your doctor will tell you the cause of your childs issue and talk to you about treatment options.
Your doctor may refer you to a speech and language pathologist. This person can show you how to help your child talk more and speak better, and also can teach your child how to listen or how to lip read.
Other specialists your doctor may recommend you see include a psychologist , an occupational therapist , or a social worker . Your doctor may also suggest programs in your area such as Early Intervention.
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Infections And Postinfectious Inflammatory Conditions
Language disorders may also be secondary to inflammation of the brain parenchymal tissue. This brain inflammation may be the result of an infection, including abscess or encephalitis, or an inflammatory disease such as acute disseminated encephalomyelitis. Brain infections may occur in both immunocompetent and immunocompromised patients, although the latter are at risk for additional infections and inflammatory reactions. Meningitis is one of the better known brain infections it is inflammation of the meninges surrounding the brain and therefore should not result in a language disorder and will not be further discussed here, although it can be devastating to the afflicted patient.
How Is The Evaluation Done
Evaluation may be formal or informal and include any combination of standardized tests direct observation of play and interaction with caregivers reports by parents, teachers, or physicians and collection and detailed analysis of spontaneous speech samples. Several sessions as well as ongoing evaluation may be required to obtain enough information to make an accurate diagnosis. The early intervention team may consist of the speech-language pathologist, audiologist, psychologist, neurologist, electrophysiologist, otolaryngologist, pediatrician, nurse, and social worker. Because speech-language delays and disorders may be due to a variety of causes, each professional makes valuable contributions to the evaluation.
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Diagnosing Expressive Language Disorder
An evaluation by your child’s pediatrician and a speechlanguage pathologist can provide information to help your child’s educators develop effective strategies. Underlying physical causes, such as hearing loss, will first be ruled out. Then further testing will be done to determine the possible causes and nature of your child’s language disorder.
With older children, diagnostic writing and speech/language tests can be used to determine what specific types of language difficulties are affecting the learner’s communication skills. Testing for other learning disabilities may be done at this time also.
Through observations, analysis of school work, cognitive assessment, and occupational therapy evaluations, speech pathologists and teachers can develop individualized therapy and education programs that will help the student learn.
If your child is very young and/or is not yet writing, the SLP will conduct an evaluation either in a one-on-one setting or a group play setting, observing how your child communicates with others, listens to and follows directions, and understands and repeats the names of objects.
Applying For Ssi Benefits With A Speech Disorder
If you are applying for disability benefits on behalf of your child, you will need to schedule an appointment at your local SSA office. You can do this by calling the SSA at 1-800-772-1213. All parents preparing to apply should also go through the Child Disability Starter Kit to find out what documents they should bring along to the in-person interview.
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What Causes Speech Or Language Delays
A speech delay might be due to:
- an oral impairment, like problems with the tongue or palate
- a short frenulum , which can limit tongue movement
Many kids with speech delays have oralmotor problems. These happen when there’s a problem in the areas of the brain responsible for speech. This makes it hard to coordinate the lips, tongue, and jaw to make speech sounds. These kids also might have other oral-motor problems, such as feeding problems.
Hearing problems also can affect speech. So an audiologist should test a child’s hearing whenever there’s a speech concern. Kids who have trouble hearing may have trouble saying, understanding, imitating, and using language.
Ear infections, especially chronic infections, can affect hearing. But as long as there is normal hearing in one ear, speech and language will develop normally.
Symptoms Of Speech Delay
A child, having a speech delay does not reach the speech milestone at a proper age. Common symptoms of speech delay include:
- Delay in babbling which should occur by 15 months
- Unable to talk by 2 years of age
- Inability to speak short sentences even on reaching 3 years of age
- Difficulty in following directions
- Putting words together into sentences becomes difficult for the child
- Leaving words out of a sentence
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High Match Language Delay And Attention Deficit
LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome .
- Delayed speech and language development
Milestones In Early Speech And Language Development
One way to monitor a childs development is to make note of speech and language milestones, explained Hillary Guest, M.S., CCC-SLP, a speech language pathologist based out of Austin, Texas. While missing a milestone is not a definitive sign that a child has a speech disorder or language delay, paying attention to the rate at which the child acquires language skills can be a helpful tool.
Guest highlighted the following milestones for children ages 0 to 3 years old.
Development Of Speech And Language Skills In Childhood
Speech and language skills develop in childhood according to fairly well-defined milestones . Parents and other caregivers may become concerned if a childs language seems noticeably behind the language of same-aged peers. This may motivate parents to investigate further and, eventually, to have the child evaluated by a professional.
More on the Milestones of Language Development
What are the milestones of typical speech-language development? What level of communication skill does a typical 8-month-old baby have, or a 18-month-old, or a child whos just celebrated his or her fourth birthday?
Youll find these expertly described in How Does Your Child Hear and Talk?, a series of resource pages available online at the American Speech-Language-Hearing Association :
Having the childs hearing checked is a critical first step. The child may not have a speech or language impairment at all but, rather, a hearing impairment that is interfering with his or her development of language.
What Are The Milestones For Speech And Language Development
The first signs of communication occur when an infant learns that a cry will bring food, comfort, and companionship. Newborns also begin to recognize important sounds in their environment, such as the voice of their mother or primary caretaker. As they grow, babies begin to sort out the speech sounds that compose the words of their language. By 6 months of age, most babies recognize the basic sounds of their native language.
Children vary in their development of speech and language skills. However, they follow a natural progression or timetable for mastering the skills of language. A checklist of milestones for the normal development of speech and language skills in children from birth to 5 years of age is included below. These milestones help doctors and other health professionals determine if a child is on track or if he or she may need extra help. Sometimes a delay may be caused by hearing loss, while other times it may be due to a speech or language disorder.
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Autism Spectrum Disorder And Specific Language Impairment
Specific language impairment exists when a child’s language difficulty cannot be accounted for by general delay in development, hearing loss, physical abnormality of the speech apparatus, ASD, apraxia, or acquired brain injury. SLI is also referred to as developmental language disorder, or language delay, and occurs in 7% to 8% of children of kindergarten age.
Language skills are delayed or disordered in both SLI and ASD. The primary distinctions between these two disorders involve social/pragmatic skills and imaginative behavior. Children with SLI display strong social interest as well as intent to communicate. They also engage in imitation and pretend play, whereas children with ASD exhibit little or no interest in imitating others, in shared enjoyment with others, or in engaging in symbolic or pretend play.