Down Syndrome: Pathology, Characteristics, and the Importance of Speech-Language Intervention
Down syndrome (DS) is a genetic condition caused by trisomy of chromosome 21, leading to a range of phenotypic, cognitive, and functional characteristics that affect a person’s development. It is the most common chromosomal anomaly, with an incidence of approximately 1 in every 700 births. While its origin is genetic, environmental and maternal factors may influence its occurrence. Understanding the importance of speech-language intervention in individuals with Down syndrome is essential.
Characteristics of Down Syndrome
1. Genetic and Physiological Features
DS occurs due to the presence of an extra copy of chromosome 21. There are three main types:
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Trisomy 21 (free) (95%): All cells contain an additional chromosome 21.
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Translocation (3-4%): Part of chromosome 21 attaches to another chromosome.
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Mosaicism (1-2%): Only some cells show the trisomy.
Physiological characteristics include generalized muscle hypotonia, increased ligament laxity, growth delay, and short stature. Congenital heart defects are common (50% of cases), along with a predisposition to respiratory infections, thyroid disorders (tendency toward hypothyroidism), autoimmune conditions, and a higher risk of neurodegenerative diseases such as Alzheimer’s in adulthood.
2. Cognitive and Language Features
Individuals with DS typically present mild to moderate intellectual disability, with challenges in working memory, information processing, attention, executive functions, and adaptive skills acquisition.
At the linguistic level:
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Delayed acquisition of oral language
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Articulation difficulties due to orofacial hypotonia
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Asynchronous development between comprehension and expression (better comprehension than expression)
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Problems in auditory and phonological discrimination
Importance of Speech-Language Intervention in Individuals with Down Syndrome
Speech-language therapy is essential to enhance communication and improve quality of life. Key objectives include:
1. Early Stimulation
From the first months of life, therapy focuses on:
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Strengthening orofacial musculature
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Stimulating auditory perception and pre-linguistic skills
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Promoting social and gestural interaction
2. Improvement of Oral and Alternative Communication
Therapy targets:
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Articulation and phonetics
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Vocabulary expansion and grammar
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Use of augmentative and alternative communication systems (AAC) in cases of severe difficulties
3. Development of Reading and Writing Skills
Since individuals with DS often perform better visually than auditorily, strategies include:
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Global reading methods
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Association of images with words
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Multisensory reinforcement for written language acquisition
4. Intervention in Swallowing and Feeding
Due to orofacial hypotonia, dysphagia and chewing difficulties are common. Speech therapy helps to:
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Improve tongue and lip mobility and coordination
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Promote safe and effective feeding habits
If you or someone you know with Down syndrome needs support, our speech-language pathologists in Marbella are here to help.
📞 Contact us: +34 672 11 50 83 / 951 765 549
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