Down Syndrome

Down syndrome, also known as Trisomy 21, is caused by an extra whole number chromosome 21, resulting in 47, rather than the normal 46 chromosomes. According to the Centers for Disease Control and Prevention, approximately one in every 700 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal  condition. About 6,000 babies with Down syndrome are born in the United States each year. The cause of the extra chromosome is unknown. Maternal age is the only factor that has been linked to an increased chance of having a baby with Down syndrome.  However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age. There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

Physical characteristics include generalized hypotonia, a flat facial profile, small ears, nose, and chin, and brachycephaly (flattened back of the head). Other physical characteristics include mid-face dysplasia (malformation of the mid-face), shortened oral and pharyngeal structures, a narrow and high arched palate, a relatively large and fissured tongue that tends to protrude, a short neck with excess skin on the back of it, hyperflexible joints, cardiac malformations (in approximately 40% of cases), and short fingers. Vision problems are also commonly presented by children with Down Syndrome, including the following: strabismus (cross-eyed), near- or farsightedness, and an increased risk of cataracts.

Communication problems include conductive loss in many cases and sensorineural loss in some. There may be language delays and disorders, especially deficient syntactic and morphological features accompanied by relatively better vocabulary skills. Hypernasality and nasal emission, breathier voice, and articulation disorders may also be present. Along with the treatment of an ENT, speech therapy will also be beneficial in improving communication deficits for children diagnosed with Down Syndrome.

Some children with Down Syndrome demonstrate no significant health problems, others may experience multiple co-occuring medical conditions. For example, almost half of all children born with Down Syndrome have a congenital heart defect. Children with Down syndrome are at an increased risk of developing pulmonary hypertension, a serious condition that can lead to irreversible damage to the lungs.

 

 

girl-with-down-syndrome

Gabrielle Cormace MS CF SLP

Resources:

Gavin, M. L. (2015, September). Down Syndrome. Retrieved from KidsHealth : http://kidshealth.org/en/parents/down-syndrome.html#

Roseberry-McKibbin, C., & Hegde, M. (2016). An Advanced Review of Speech-Language Pathology. Austin, TX: Pro-ed.

National Down Syndrome Society. (n.d.). What Is Down Syndrome? . Retrieved from National Down Syndrome Society: http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/

Cleft Lip & Cleft Palate

A cleft is an opening in a normally closed structure. Cleft lip, therefore, is an opening in the lip, usually the upper lip. Lower lip clefting is very rare. Clefts of the lips alone are very rare; they are usually associated with cleft of the palate. Cleft of the palate are often not associated with cleft lips, however. Cleft lips are often unilateral than bilateral, and they occur more frequently on the left side than on the right side. Rare bilateral lip clefts have an even greater tendency to coexist with palatal cleft than unilateral left lip clefts do. Cleft lips alone rarely result in speech disorders and are less frequently associated with other genetic anomalies than palatal clefts. Clefting is a congenital disorder, meaning it is present from birth. Congenital disorders may or may not be inherited.

Palatal clefts are various congenital malformations resulting in an opening in the hard palate, the soft palate or both. These malformations are due to disruptions of the embryonic growth processes, resulting in a failure to fuse structures that are normally fused. Cleft palates may be a part of a genetic syndrome with other anomalies. It is now belived that clefting of the lip and palate is etiologically different from clefting of the palate only. Generally, males tend to exhibit a higher frequency and greater severity of cleft lip (with or without cleft palate) than females, who tend to exhibit higher frequency of palatal clefts (without the cleft lip).

  1. Etiology:
    1. Genetic abnormalities
      1. Autosomal dominiant ingeretance in some syndromes (e.g., Apert syndrome, Stickler syndrome, Van der Woude syndrome, Waardenburg syndrome, and Treacher-Collins syndrome)
      2. Recessive genetic ingeritance in some syndromes (e.g., orofacial-digital syndrome)
      3. X-linked ingeritance in some syndromes (e.g., oto-palatal-digital syndrome)
      4. Chromosomal abnormalities (e.g., Trisomy 13)
    2. Environmental teratogenic factors
      1. Fetal alcohol syndrome
      2. Illegal drug use
      3. Side effects of some prescription drugs (e.g., anticonvulsant drugs or thalidomide, a sedative)
      4. Rubella
    3. Mechanical factors
      1. Intrauterine crowding
      2. Twinning
      3. Uterine tumor
      4. Amniotic ruptures

Communication disorders associated with clefts include hearing loss (e.g., middle ear infections and hearing loss), speech sound disorders (e.g., difficulty with unvoiced sounds, difficulty with sibilants /s, z/, difficulty with fricatives, affricates and plosives, and sound substitutions), language disorders (e.g., expressive language delays) and laryngeal and phonatory disorders (e.g., vocal nodules, hypertrophy and edema of the vocal folds, hoarseness, reduced vocal intensity, hypernasality, hyponasality, denasality, or combination). Children who are born with cleft lip and/or palate will most often require intervention, specifically speech-language therapy to address deficits within resonance, voice and/or expressive speech skills.

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Gabrielle Cormace MS CF-SLP

Resource: Roseberry-McKibbin, C., & Hegde, M. (2016). An Advanced Review of Speech-Language Pathology. Austin, TX: Pro-ed.

 

Specific Language Impairment (SLI)

Children with SLI manifest an impairment specific to language. This impairment is not secondary to other developmental disabilities. Children with SLI have no known etiology or associated condition, such as sensorimotor problems, intellectual disability, or significant neurological impairments. Some children with SLI have cognitive deficiencies, although their general intelligence may be within the normal range. The sequence of language development in children with SLI is the same as that of typically developing children. However, problems may be seen with various components of language. Children with SLI display varied profiles. Some have great difficulty in syntax but relatively normal pragmatic performance and moderate difficulty with semantic skills, for example. Children with SLI present as widely varied and diverse group.

Children with SLI often have articulatory and phonological difficulties and/or speech sound disorders. They may have poor speech intelligibility and may exhibit phonological processes longer than typically developing children.

Learning abstract or figurative words is often hard for children with SLI. They frequently use concrete, not abstract, words to express themselves. For example, a child with SLI might say, “I’m mad,” instead of “I feel frustrated with this situation.”  The majority of children with SLI have marked morphological problems including the following:

  1. Perceptual problems. Children do not perceive morphological features as well as they do other features because those features are produced with less stress and lower intensity.
  2. Syntactic problems. The syntactic complexity involved in sentence comprehension and production may have a negative effect on morphology.
  3. Regular and irregular plural morphemes
  4. Possessive morphemes
  5. Present progressive –ing
  6. Third-person singular (e.g., “He plays ball”)
  7. Articles (a, an, the)
  8. Auxiliary and copula verbs (e.g., the auxiliary is in “She is running”; the copula is in “She is smart”)
  9. Comparatives and superlatives (e.g., -er in smaller and –est in smallest)
  10. Children with SLI may also show confusion with the following structures:
    1. Singular and plural forms of words
    2. Plural and singular forms of auxiliary and copula verbs (are, is)
    3. Subject case marking (him, he; her, she)
    4. Regular and irregular forms of plural and past tense morphemes

Children with SLI may have difficulty with the following aspects of pragmatic language skills, also known as the social use of language:

  1. Topic initiation
  2. Turn taking
  3. Topic maintenance
  4. Appropriate conversational repair strategies (e.g., asking, “What do you mean?” when a speaker’s utterances are not understood or changing one’s own productions when a listener fails to understand”
  5. Discourse and narrative skills
  6. Staying relevant during conversation

Young children with SLI are at risk for later problems with reading and writing. If a child demonstrates any of the aforementioned difficulties, they may present with a specific language impairment (SLI) and speech-language therapy may be warranted.

language

Resources:

Roseberry-McKibbin, C., & Hegde, M. (2016). An Advanced Review of Speech-Language Pathology. Austin, TX: Pro-ed.

Gabrielle Cormace MS CF-SLP

4 Components of Language

Linguistics is the study of language, its structure, and the rules that govern its structure. Linguists, specialists in linguistics, have traditionally analyzed language in terms of several subfields of study. Speech-language pathologists study these subfields of language and are specially trained to assess and treat language and its subfields. These include morphology, syntax, semantics, pragmatics and phonology.

Morphology is the study of word structure. It describes how words are formed out of more basic elements of language called morphemes. A morpheme is the smallest meaningful unit of a language. Morphemes are considered minimal because if they were subdivided any further, they would become meaningless. Each morpheme is different from the others because each singles a distinct meaning. Morphemes are used to form words. Base, root or free morphemes are word that have meaning, cannot be broken-down into smaller parts, and can have other morphemes added to them. Examples of free morphemes are ocean, establish, book, color, connect, and hinge. These words mean something, can stand by themselves, and cannot be broken down into smaller units. These words can also have other morphemes added to the. Bound or grammatical morphemes, which cannot convey meaning by themselves, must be joined with free morphemes in order to have meaning. In the following examples, the free morphemes are underlined; the bound morphemes are in capital letters: oceanS, establishMENT, bookED, colorFUL, DISconnect. Common bound or grammatical morphemes include the following: -ing (the present progressive), -s (the regular plural; e.g., cats), -s (the possessive inflection; e.g., man’s), and –ed (the regular past tense; e.g., washed). Morphemes are a means of modifying word structures to change meaning. The morphology of a given language describes the rules of such modifications.


Syntax and morphology are concerned with two major categories of language structure. Morphology is the study of word structure syntax is the study of sentence structure. The basic meaning of the word syntax is “to join,” “to put together.” In the study of language, syntax involves the following:

  1. The arrangement of words to form meaningful sentences
  2. The word order and overall structure of a sentence

A collection of rules that specify the ways and order in which words may be combined to form sentences in a particular language. As they mature in syntactic development, children begin to use compound and complex sentences, which can be defined as follows:

  1. Compound sentence: two or more independent clauses joined by a common and a conjunction or by a semicolon. There are no subordinate clauses in a compounded sentence. A clause contains a subject and a predicate. An independent or main clause has a subject and a predicate and can stand alone (e.g., “The policeman held up the sign, and the cars stopped.”)
  2. Complex sentence: contains one independent clause and one or more dependent or subordinate clauses. A dependent or subordinate clause has a subject and predicate but cannot stand alone. (e.g., “I will drive my car to Reno if I have enough gas.”)

Syntax rules differ by language. Speakers of a language do not produce structures with random and meaningless word order. If they do, speech and language therapy may be warranted. For example, an English speaker could say, “He said he was going to come but didn’t.” Due to syntactic rules, a speaker could not say, “He’s going to was said he didn’t but come.” Languages have different syntactic structures. In English, the basic syntactic structure is subject + verb + object. This structure, usually called the “kernel sentence”, can also be called the phrase structure or base structure.


Semantics is the study of meaning in language. The semantic component is the meaning conveyed by words, phrases and sentences. Semantics includes a person’s vocabulary or lexicon. Vocabulary development depends heavily upon environmental exposure, as well as the individual capacity each child brings to the learning situation. Important aspects of vocabulary development include knowledge of the following: antonyms, or opposites, synonyms, multiple meanings of words, humor/riddles, figurative language (including metaphors, idioms, proverbs), deictic words, or words whose referents change depending on who is speaking (e.g., this here, that, come, go).

 

  1. Semantic categories are used to sort words. Examples of a few of these categories are recurrence, rejection, and causality. A child using recurrence might say, “More milk”.
  2. Word knowledge involves a person’s autobiographical and experiential memory and understanding of particular events. For example, a child might be able to discuss an aquarium because he has been to several and has been exposed to marine life.
  3. Word knowledge is primarily verbal and contains word and symbol definitions. For example, a child might be able to name the planets in the solar system because she has learned them in kindergarten.
  4. Another important semantic aspect of language development is developing the ability to categorize words. For example, children must learn that tiger, cat, dog, pig and horse fall into the category of animals.

Pragmatics is the study of rules that govern the use of language in social situations. In pragmatics, one focuses on use of language in social context. Pragmatics places greater emphasis on functions, or uses of language, than on structure. Functions of language include:

  1. Labeling/naming
  2. Protesting
  3. Commenting
    1. Important functions of utterances include the following:
      1. Providing listeners with adequate information without redundancy
      2. Making a sequence of statements coherent and logical
      3. Taking turns with other speakers
      4. Maintaining a topic
      5. Repairing communication breakdowns

      Language context involves where the utterance takes place, to whom the utterance is directed and what and who are present at the time. Pragmatic skills also involve the appropriate knowledge and use of discourse. Discourse refers to how utterances are related to one another it has to do with the connected flow of language. Discourse can involve a monologue, a dialogue, or even conversational exchange. When people talk to one another they are engaging in discourse. Pragmatic skills are important social skills for social, academic and vocational success.


      References:Roseberry-McKibbin, C., & Hegde, M. (2016). An Advanced Review of Speech-Language Pathology. Austin, TX: Pro-ed.

       

      Gabrielle Cormace MS CF SLP

      HELLO in eight different languages