Genetic and Developmental Disorders

Many genetic and developmental disorders can have an impact on speech and language development. Speech-Language Pathologists work with children who need support with any aspect of speech, understanding, expressing, voice clarity, and social communication.

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Genetic and Developmental Disorders: How Speech and Language are Impacted

For many children with genetic disorders or developmental disabilities, speech and language development is often impacted. A genetic disorder is defined as a change in DNA sequence, such as an addition, deletion or mutation in part of a gene, gene sequence, or chromosome. A developmental disorder refers to a category of disorders which impact multiple areas of major life activity, such as movement, language, cognition or other behavioral differences. These two terms encompass a wide variety of disorders and disabilities - and each child is unique in how the delay, disorder or disability may present. When speech and language development is affected by a known biomedical condition X, it is often identified as a Language Disorder associated with X. Where these difficulties exist but there is no previously identified condition that impacts speech and language development, it is often identified as Developmental Language Disorder (DLD). To read more about DLD, not associated with a biomedical condition, see this page.

Language and speech, essential components of communication, enable individuals to express thoughts, emotions, and needs. When these are compromised, it can lead to isolation and difficulties in everyday life. TIn this article, we will give a brief overview of how speech and language development is impacted by several disorders, Down syndrome, Global Developmental Delay, Cerebral Palsy, Fetal Alcohol Syndrome, and Williams Syndrome. Each child’s strengths and challenges are always unique to them. By understanding how certain genetic or developmental differences generally impact speech and language, speech therapists are better able to guide child-led support plans and treatment goals.

Down Syndrome

Down syndrome, caused by the presence of an extra chromosome 21, is one of the most common genetic disorders impacting language and speech development[1]. Individuals with Down syndrome often exhibit impaired phonological memory skills, which encompass the ability to remember sound patterns. This impairment is frequently linked to poorer language comprehension and reduced mean length of utterance (i.e., the average length of phrase or sentence used when speaking)[1].

Furthermore, people with Down syndrome may experience difficulties in two critical areas of language learning: syntax, which involves the rules for combining words into sentences; and pragmatics, the use of language in social contexts. Articulation, voice, fluency, and intelligibility are aspects of speech that can also be affected in Down syndrome. Articulation refers to how speech sounds are made, while voice involves the use of the vocal cords and breathing to produce sound. Fluency pertains to the rhythm, flow, and ease of speech, and intelligibility is about how well others understand the speech. Individuals with Down syndrome may have issues with these speech components, affecting their ability to communicate effectively[6].

Understanding these characteristics of Down syndrome is pivotal for educators, therapists, and caregivers to create effective communication strategies and foster inclusive environments for individuals affected by this condition. Speech-Language Pathologists can offer support to individuals with Down syndrome by working on goals related to language structure, speech sound development, using AAC if appropriate, and social communication.

speech therapist painting with child with Down syndrome

Global Developmental Delay

Global Developmental Delay (GDD) refers to a condition that affects multiple developmental domains, including language, motor function, cognition, social interaction, and activities of daily living[2]. Unlike other disorders that might impact a specific area of development, GDD is pervasive, affecting several different aspects of a child's growth and maturation.

Children with GDD typically present with delays in various areas, which include speech and language, social, cognitive, play, and motor skills[12]. The specific language impairments associated with GDD can vary significantly. Some children might experience issues with articulation, while others may have trouble understanding language or forming sentences. This variability is usually due to the underlying cause and severity of the condition.

The impact on speech and language development can profoundly affect a child's ability to communicate their needs and engage with the world around them. Speech therapists work with children with GDD and their families to support speech and language development in ways that are individualized to the child and their needs.

child works with speech-language pathologist

Cerebral Palsy

Cerebral Palsy is a neurological disorder stemming from damage to the brain during pregnancy, childbirth, or shortly after birth[3]. The condition primarily affects muscle coordination, which can influence various aspects of a child's development, particularly in terms of speech and language.

The motor control difficulties associated with cerebral palsy often extend to the muscles of the face, throat, neck, and head, which are crucial for speech, chewing, and swallowing[3]. Consequently, children with cerebral palsy may experience challenges with articulating words, a condition often known as dysarthria.

Understanding spoken language may also prove difficult for these children, further complicating their communication abilities[3]. While they might comprehend the meaning of words and sentences, the muscle coordination required to respond can be a substantial obstacle.

Speech and language therapy can significantly aid a child's communication by increasing oral motor skills needed for speech, using AAC when applicable, and improving their understanding of language[13]. By addressing these issues, such therapy can enhance a child's ability to express their thoughts and engage in social interactions, contributing to a better quality of life.

Fetal Alcohol Syndrome

Fetal Alcohol Syndrome (FAS) is a condition that occurs in children whose mothers consumed alcohol during pregnancy[4]. Alcohol exposure in the womb can interfere with normal development, resulting in a range of physical, cognitive, behavioral, and learning problems, including deficits in language and speech.

Children with FAS often present both receptive and expressive language deficits[4]. Receptive language involves understanding what is being said or read, while expressive language refers to the ability to communicate thoughts, ideas, and feelings. Impaired receptive language can manifest as difficulties in comprehending morphology, syntax, verbal commands, and single-word vocabulary. On the other hand, expressive language deficits may be evidenced by the production of fewer complex sentences[9]. Individuals with FAS often also demonstrate difficulties with regards to social communication and executive functioning.

These language and speech deficits can have far-reaching implications for a child's cognitive and social development. They can interfere with academic achievement, social interaction, and overall functioning. Therefore, early diagnosis and intervention are critical to improving outcomes for children with FAS and supporting their ability to communicate effectively.

Williams Syndrome

Williams Syndrome is a rare genetic disorder that arises from a deletion of several genes on chromosome 7[5]. While the condition is characterized by cardiovascular disease and distinct facial features, it is also associated with intellectual or learning disabilities, including significant delays in speech and language development.

Despite these challenges, individuals with Williams Syndrome often have relative strengths in certain areas of language. For example, they may demonstrate proficiency in concrete vocabulary, phonological processing (how sounds function in a particular language), and verbal short-term memory[5]. These strengths can serve as foundational skills to build upon in therapeutic interventions.

Individuals with Williams Syndrome also often present with difficulties in relational/conceptual language, reading comprehension, and pragmatics (the social use of language)[5]. These weaknesses can create barriers to effective communication and academic achievement.

Understanding the unique linguistic profile of individuals with Williams Syndrome is crucial in tailoring appropriate educational strategies and therapeutic interventions. By leveraging their strengths and addressing their weaknesses, it is possible to enhance their language skills and overall quality of life.

speech therapist working with child with William's syndrome

Conclusion

The impacts of genetic disorders on language and speech development are diverse and complex. They can profoundly affect individuals' abilities to communicate, express their needs, thoughts, and emotions, and engage in social interactions [5]. This article outlined only some examples of how developmental differences can interact with speech and language development - surely not an exhaustive list! Speech-Language Pathologists have a nuanced understanding of how each condition affects language and speech development. While also striving to know and understand each child’s unique profile of strengths and challenges, this knowledge can guide the design of effective therapeutic interventions tailored to the unique needs of each individual [6]. Reach out today to learn how speech and language support services may benefit your child and family.

FAQs

Links & Resources for Families of Children with Genetic and Developmental Disorders

  • The Edmonton Down Syndrome Society

    The Edmonton Down Syndrome Society provides support

    The Edmonton Down Syndrome Society

  • Book Recommendation: "Something to Say About My Communication Device"

    This story., by Eden Molineux, SLP-CCC, shares about Kate, who uses a communcation device to participate in classroom discussions, play with her friends, and tell jokes. It’s a great book to read in your child’s class to introduce them to the idea of a child using a “talker”, or a communication device (AAC).

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