Communication Issues

Living with 22q

22q Deletion Syndrome: A guide for Speech and Language Pathologists
By Paula Klaiman, Speech and Language Pathologist

Calcium Regulation
22q Deletion Syndrome is a genetic condition with an incidence of approximately 1 in 4,000.  The range of clinical findings is extensive and variable, and affects nearly every organ and system of the body.  The most common features include: Congenital Cardiac Anomalies, Palatal defects including Hypernasal speech, immune deficiencies, hypocalcemia, developmental delay, learning disorders, dysphagia and mild facial dysmorphism.

As the medical community becomes more aware of this syndrome, many are referring for screening for 22q deletion at earlier ages.  This is particulary true for children presenting with cardiac anomalies at birth.  This early diagnosis allows for the screening of known potential deficits and allows the initiation of early intervention.

This is particularly important to Speech Language Pathologists involved in the treatment of young children.  Because the effect of the deletion on early development is so widespread and devastating to early communication and behaviour, every child with the deletion should be considered at risk for communication disorders and should therefore be enrolled in an early intervention program as soon as the diagnosis is made. A proactive stance is recommended in the management of these patients.

Children with 22q deletion syndrome are universally delayed in their acquisition of language milestones and once expressive language and speech skills begin to emerge, they are disproportionately low in comparison to their receptive language delay. Furthermore, the speech, language and learning patterns in these children may be unique and may require more specialized intervention strategies.  Therefore, knowledge of the pattern of communication impairment may lead to more effective and efficient intervention procedures.

Immune System

Speech and Language Impairment in 22q Deletion Syndrome

  • VPI: May be related to cleft palate, submucous cleft palate (overt or occult), hypotonia, palatopharyngeal disproportion or post-adenoidectomy. Characteristics associated with VPI include: hypernasality, audible nasal air emission on high pressure consonants, nasal/facial grimacing, compensatory articulation substitutions (particularly glottal stops), nasal substitutions, omitted consonants, or weak pressure on oral consonants.

  • Respiratory and phonatory disorders: strained-strangled voice, decreased loudness, high-pitched voice, poor respiratory support (vocal fatigue at the end of a phrase, reduced syllables per breath).

  • Low muscle tone: flat facies, open mouth at rest, drooling, tongue protrusion, palatal hypotonia (VPI), nasal regurgitation, feeding disorders.

  • Delayed acquisition of language milestones:This delay is universal and is often greater than the delay in general cognitive development.

  • Motor speech disorders: poor imitation, groping oral movements, poor stimulability, poor sequencing of sounds.

  • Articulation or phonological error patterns: high incidence.

Guidelines for intervention in 22q Deletion Syndrome infants and preschool children.

  • Parent Training and Caregiver Consultation

  • Suggestions specific to 22q Deletion Syndrome:

  • Prevent the establishment of compensatory articulation substitutions, particularly glottal stops. Train parents and caregivers to recognize the difference between oral and compensatory articulation. Behaviour modification techniques can then be applied with parents ignoring compensatory productions (negative reinforcement) and positively reinforcing oral productions. The difficulty with this approach is trying still to reward the child’s communication attempts. If the child is producing a word with glottal stops, encourage the parent to model the correct response exaggerating the aspects of the child’s production that needs to be corrected. Parents may want to replace the utterance with an easier target word.

  • Encourage oral airflow for non-speech activities as a visual aid. This will lay the foundation for increasing oral airflow and pressure during the production of early developing phonemes.

  • Enhance expressive vocabulary by targeting words containing phonemes already in the child’s repertoire or sounds that are easier to produce (vocalic and nasal consonants). Do not target words that begin with vowels since vowel-initial words begin with a glottal stop.

  • Target aspirated and sustained productions of "hhhhh" and then begin to overlay mouth opening and closing in order to approximate.

  • Focus on the correct articulatory placement of early developing sounds and do not worry about hypernasality. You can train parents to gently occlude their child’s nostrils in order for the child to hear the correct target.

  • For non-verbal children, alternative communication strategies may help to reduce frustration, increase communicative competencies, stimulate imitation skills and bridge the gap towards the development of more conventional speech/language symbols.

General learning/behavioural characteristics to keep in mind when planning intervention

  • Difficulty retaining information from a single presentation. Sessions should be frequent and short. If this is not possible, take frequent breaks (every 10-15 minutes).

  • There are a wide variety of behavioural characteristics associated with this population which may influence the way therapy is structured. Some children may be very shy and inhibited, phobic, startle easily or have tactile defensiveness. The clinician may need to "easy into" the child’s space and integrate the parent into activities in order for the child to feel comfortable. Other behavioural characteristics described in this population include: impulsivity, hyperactivity, disinhibition, self-directed behaviour, noncompliance, attention disorders and poor social skills. Some have suggested that these children prefer independent play and do not comply in order to please an audience or receive praise. This may require creative planning in order to engage and motivate a child.