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What are the Cognitive and Behavioural Characteristics of Cornelia de Lange Syndrome?


Cognitive and behavioural characteristics in CdLS can vary widely among affected individuals and range from relatively mild to severe. Cognitive characteristics refer to brain-based processes which are involved in skills such as thinking, learning, remembering, paying attention and reading. ‘Executive function’ is a term that is used to describe a group of brain-based cognitive processes that control and regulate our behaviour. Individuals with CdLS are more likely to engage in certain behaviours than people without the syndrome, these behaviours can be described as behavioural characteristics or a ‘behavioural phenotype’.

Intellectual Disability

Intellectual disability is a term that is used when a person has difficulties with cognitive (intellectual) functioning and adaptive behaviour (everyday practical and social skills). It can also be referred to as developmental disability or learning disability. Intellectual disability can be described as mild, moderate, severe or profound. This indicates the degree of disability and is based on the impact the intellectual disability has on the individual’s day to day functioning.

Most individuals with CdLS have moderate to severe intellectual disability and a small number have mild intellectual disability. Research has suggested that individuals with CdLS caused by an NIPBL mutation usually function at a lower level than individuals with CdLS caused by a mutation in another known CdLS gene, SMC1A (3). The type of NIPBL mutation does not seem to be associated with the level of intellectual disability (11,26,137), although missense mutations (single small mutations) have been noted to produce less severe effects, however individuals with an NIPBL mutation can also have mild intellectual disability (138).

Executive Function

Executive function is a term that refers to brain-based processes that control and regulate our behaviour. Individuals with CdLS may have specific difficulties in executive functions. Usually, these difficulties affect individuals’ mental flexibility (ability to shift thoughts or attention) and visual short-term memory (139). However, some executive functions, such as inhibition (stopping a behavioural or verbal response) may be relative strengths in CdLS (140).

Executive functioning abilities in CdLS are suggested to be associated with aspects of the CdLS behavioural phenotype. For example, executive functioning difficulties in CdLS may be associated with frequent repetitive behaviour and social anxiety (139,140).

Individuals with CdLS can benefit from having their environment structured according to their cognitive strengths and weaknesses. Environment enrichment strategies can be used to facilitate cognitive and learning abilities in CdLS.

Sensory Processing

Sensory processing is a term that describes how the brain takes in and manages input from all the senses. In sensory processing, the brain deals with information from the five traditional senses (touch, taste, smell, sound and sight) and two other senses which contribute to a person’s balance (movement and awareness of where their body parts are in space).

Difficulties in sensory processing can lead to hyposensitivity and hypersensitivity (141,142,143). Hyposensitivity occurs when an individual is under-sensitive to stimuli and has trouble processing information from the senses. Hypersensitivity occurs when an individual is over-sensitive to stimuli, for example, common sounds could be painful or overwhelming. Individuals with hypersensitivity usually have low sensory thresholds. This means that the sensory system is activated by very little sensory input.

Individuals with CdLS usually experience difficulties in sensory processing (145), regardless of their level of intellectual disability (146). In addition to hypo- and hypersensitivity, there can be confusion or fixation on sensory stimuli. For example, gastrointestinal problems and other organ issues can lead to anxiety, mood disorders and self-injury. Individuals with CdLS who also have an autism spectrum disorder (ASD) may have low sensory thresholds (141) and defensive responses towards sensory stimuli (147). Hyper- and hyposensitivity and other sensory processing difficulties should be assessed, and support strategies should be implemented in individuals with CdLS throughout their lifespan (R50). Interventions should address individual’s sensory needs in order to enhance development and participation in daily living (146).

Adaptive behaviour in CdLS

Adaptive behaviours are age-appropriate behaviours that people need to function well in daily life and live independently. Adaptive behaviours include life skills such as dressing, grooming, food handling, safety, making friends, communication, cleaning, managing money and ability to work.
Individuals with CdLS demonstrate difficulties in adaptive behaviour across the lifespan. This means that many children and adults with CdLS will need help with daily tasks, such as washing and dressing. Many individuals with CdLS do not develop verbal communication skills. Expressive communication skills (ability to express oneself) are usually significantly more impaired than receptive language skills (ability to understand communication). Individuals with CdLS often use a number of non-verbal strategies to communicate, for example, social approach and pushing a person’s hand away.

Adaptive behaviour difficulties are usually more marked in individuals with CdLS caused by a NIPBL mutation (148,149). Difficulties in adaptive behaviour in CdLS are comparable to difficulties seen in Angelman syndrome and Rubinstein-Taybi syndrome, though deficits in adaptive skills are usually more marked in CdLS compared to other genetic conditions (151,152,153,150). Adaptive behaviour skills in CdLS can change over time and changes tend to vary depending on the specific skill. For instance, individuals tend to show increases in specific self-help skills with age (for example, washing and feeding) and decreases in other skills (for example, ability to call for help or to move independently) (10,154,109). However, reports of changes in adaptive behaviour skills vary, and more research is needed (109,155).

To enhance independence in CdLS, it is important to increase adaptive skills throughout the lifespan. Cognitive strengths and weaknesses should be assessed in order to design personalised educational and interventional programmes that should include specific goals for the individual. Additional developmental and educational support should be provided to individuals with CdLS to reach their maximum cognitive and educational potential, taking into account their specific cognitive impairments (R51,R52,R53).

Self-injurious and aggressive behaviours

Self-injurious behaviour refers to non-accidental behaviours that have the potential to cause damage, such as reddening of the skin, bruising, bleeding, hair loss, etc. Self-injurious behaviour is common in individuals with CdLS and includes behaviours such as self-hitting, head banging or self-biting (156), although it is not an inevitable consequence of the syndrome. Some behaviours shown in CdLS can be identical to self-injurious behaviour but do not cause any bodily damage. These behaviours may develop into self-injurious behaviour over time (157).

There are several risk markers for self-injurious behaviours in CdLS. Individuals with more severely impaired cognitive abilities, communication skills and adaptive behaviours are more likely to display self-injurious behaviour. Risk markers may also include CdLS caused by an NIPBL gene mutation, and increased levels of impulsivity, repetitive behaviours and characteristics associated with autism spectrum disorder (156).

Approximately half of individuals with CdLS display clinically significant self-injurious behaviour (158). Usually this is directed towards the individual's hands (159). Self-injurious behaviour can result in physical injury, the severity of which is dependent on the amount of damage and functional loss (156). Sometimes it may be necessary to use restraints to prevent permanent damage (107).

Self-injurious behaviour in CdLS may be a sign of or response to pain and has been associated with common medical conditions in CdLS, such as gastrointestinal problems, ear infections, constipation, dental disease or hip problems. It is important that the cause of self-injurious behaviour in individuals with CdLS be identified. This often requires medical assessment to specifically look for the sources of pain, as well as behavioural assessment and consideration of the individual’s environment. Treatment or intervention strategies can then be matched to the function of self-injurious behaviour. Treatment should include both medical and behavioural strategies (R54,R55).

Repetitive behaviour

Repetitive behaviour is a term that includes a wide range of behaviours such as stereotyped behaviours (e.g. rocking, spinning, hand flapping), compulsive behaviours (e.g. lining up objects), insistence on sameness (e.g. adhering to a routine), restricted interests (e.g. attachment to a particular object) and repetitive speech (e.g. asking the same questions over and over again). Some of these behaviours are seen in certain stages of development in typically developing infants but may reappear with age in some disorders, including in CdLS. Repetitive behaviour in CdLS may be associated with anxiety, sensory problems or social demands (161, 162,163). More frequent repetitive behaviours are usually seen in individuals with more marked intellectual disability or with ASD (161,163). Stereotyped behaviour and compulsive-like behaviours are common in CdLS (162), and also may include ritualistic behaviours such as lining up or tidying objects. Repetitive behaviour in CdLS does not seem to be associated with the genetic cause of the syndrome (10) and research into repetitive behaviour in CdLS has not indicated any clear changes in repetitive behaviour over time (161,163).

It is often not appropriate to intervene with repetitive behaviour unless the behaviour is causing a problem for the individual. If interventions are needed, they should consider the function of the repetitive behaviour and the reasons why the individual is engaging in the behaviour (e.g. due to anxiety). Interventions should consider these factors as well as environmental factors, such as predictability in daily structure.

Specific medications, such as selective serotonin reuptake inhibitors (SSRIs) (e.g. Prozac), have been increasingly used in CdLS, especially for obsessive-compulsive disorders and mood disorders, although these have not proven successful in reducing repetitive behaviour in individuals with autism. These medications can result in the worsening of behaviours or activation of other behaviours. Another group of medications, second generation anti-psychotics, can also be used in CdLS, especially in managing body rigidity and need for sameness, which can escalate into disruptive behaviours.

Social functioning and Autism Spectrum Disorders (ASD)

ASD, social anxiety and mood disorders are common mental health difficulties in individuals with CdLS (109,137,152,154,165,166,167,168,169). These mental health difficulties do not seem to be linked with the specific gene or genetic mutation that has caused CdLS (10,137,148,149,169). Because most individuals with CdLS are unable to reliably report their own discomfort, behaviour or feelings, it can be difficult to assess difficulties that they may be experiencing. Often, difficulties are detected from observation of an individual’s behaviour or reports of their behaviour from parents or carers. Behaviours suggesting difficulties could include eye-gaze avoidance, pushing away and screaming (80,170,171). These behaviours are often associated with the social setting and can sometimes be associated with parental stress (109,137).

Approximately just under half of all individuals with CdLS display symptoms of ASD (159). The three core characteristics of ASD include:

  • Poor or unusual social interaction skills
  • Delayed development or difficulties in verbal and non-verbal communication (e.g. gestures, pointing, showing, etc)
  • The presence of repetitive behavior

ASD has been associated with poorer adaptive behaviour skills in individuals with CdLS caused by an NIPBL mutation (10). ASD should be considered when individuals with CdLS display social, communication and behavioural impairments beyond what would be expected for their cognitive ability.
Symptoms of ASD in CdLS are not always associated with an individual’s degree of intellectual disability (150,172,173). Research has shown that when compared to individuals with ASD, individuals with CdLS show a lot of similarities but also small differences in specific areas of communication and social interaction (173). These small differences especially concern social anxiety (worry), extreme shyness and selective mutism (not speaking in social situations where there is an expectation for speaking, e.g. at school), which are all more common in CdLS (2,65,109,150,152). Differences in communication and social interaction between CdLS and ASD become clearer with age and with increased social demand. Social motivation, social communication and enjoyment are similar in both CdLS and ASD (175).

A clinical diagnosis of ASD should be considered in all individuals with CdLS throughout life, taking into account atypical presentations (R56). Assessment for ASD in CdLS may use standardised ASD diagnostic tools. It is also important that detailed observations are carried out to accurately assess ASD and social functioning, and to understand the level and characteristics of communicative, adaptive and language abilities in an individual with CdLS (R57). ASD-specific interventions should be considered in all individuals with CdLS, however, it is important that interventions to aid social functioning are sensitive to CdLS-specific aspects of communication and social interaction (65,66,174) (R58).

Anxiety

Anxiety is common in individuals with CdLS. Anxiety in CdLS usually presents as social anxiety (excessive worry about daily life events with no obvious reason for worry), separation anxiety (excessive fear about separation from home or a parent/carer) or selective mutism (not speaking in social situations where there is an expectation for speaking, e.g. at school) (168,148).

Anxiety in CdLS can lead to increased repetitive behaviour, mood-related symptoms or disruptive, aggressive and self-injurious behaviours (109). It is important that any intervention targeting problematic repetitive behaviour in an individual with CdLS be sensitive to anxiety, sensory problems and social demands. Interventions should also consider environmental factors (R59).

Social interactions can also provoke anxiety in individuals with CdLS and lead to behavioural responses that can be observed, such as fidgeting, avoiding eye gaze and active avoidance (152,175). Individuals with CdLS often have an increased preference for sameness, meaning many individuals have difficulty adjusting to changes in their routine. This can make transitional periods more challenging and provoke anxiety (148,162,174). During transitional periods, plans can be put in place to help individuals adjust to changes and reduce levels of anxiety (R61).

Assessing anxiety in CdLS can be difficult, particularly in individuals who display challenging behaviour such as self-injury, aggression, shouting and screaming (137). Often, anxiety and mood disorders can be identified by observing behavioural changes in individuals with CdLS (R60). Treatment of anxiety and mood disorders may include psychosocial interventions (therapy to improve health and well-being) and/or medication (R62).

Communication and language

Communication abilities vary widely in CdLS. Typically, individuals with CdLS experience major difficulties in communication and many individuals do not develop verbal communication. Speech difficulties in CdLS often occur due to abnormal muscle tone. However, visual impairment, hearing loss and mouth structure or jawbone abnormalities (e.g. cleft palate, page 18) can also lead to speech and communication difficulties. Difficulties in communication and understanding communication can also arise from cognitive impairment (problems with memory, thinking and communication)(176,178).
Currently there is little research on the relationship between intellectual functioning, behaviour and communication skills in CdLS (169). 

Individuals with CdLS tend to communicate with a low-pitched cry when young, and then speak with a low monotone (expressionless) voice (140,179). Selective mutism (not speaking in social situations where there is an expectation for speaking e.g. at school) is often seen in CdLS. Selective mutism in CdLS may occur as a part of ASD or as an expression of anxiety (148,152). Expressive language difficulties are common in CdLS (170,176,177). Individuals with CdLS usually experience more marked difficulties in expressive language than receptive language (ability to understand communication). Receptive language difficulties in CdLS usually specifically relate to sentence grammar (138).

Individuals with CdLS will often develop methods of non-verbal communication. Non-verbal communication skills can include approaching, touching, showing, pointing, giving or gesturing. These methods of non-verbal communication are usually subtle and can be easily missed (178). The teaching of sign language such as Makaton may prove helpful.

It is important to remember that difficulties in language and communication do not occur in all individuals with CdLS. Some individuals will develop good speech and language skills.

Social anxiety and difficulties in social interaction can impact negatively on an individual’s language skills and engagement in non-verbal communication (138,174). Communication difficulties in CdLS are also associated with, and often occur alongside, challenging behaviours such as self-injury or aggression (3).

Assessment of communication skills in CdLS should consider whether an individual experiences vision and hearing problems, speech impairments, intellectual disability, difficulties in social interaction and social anxiety (R63).

Effective verbal and non-verbal communication skills can greatly improve quality of life for individuals with CdLS. Developmentally appropriate communication interventions can be used to help develop effective communication skills, starting within the first 18 months of life (138,181,182). Communication interventions may include speech therapy or alternative and augmentative communication (AAC) (R64). AAC may include use of gestures, icons, pictures and written language. Assessment of an individual’s level of communication and limitations will help to decide which communication intervention will be most effective (180).

Parents are typically experts in understanding the communication signals of their child. The experience parents acquire over the years is invaluable and extremely helpful to behavioural specialists and speech therapists. Detecting and identifying small communicative signals, awareness of one’s own reactions and understanding their meaning facilitates adjustment of communication and responses. Responsive milieu teaching (arranging objects in a child’s environment to create a setting that encourages communicative behaviour) and video observations can be very helpful in detecting and identifying subtle communication signals, their meanings and appropriate responses, especially for individuals with marked cognitive impairments (183,184).

summary section

What are the Cognitive and Behavioural Characteristics of Cornelia de Lange Syndrome?:

R50: Hyper- and hyposensitivity and other sensory processing difficulties should be assessed, and support strategies should be implemented in individuals with CdLS throughout their lifespan.


R51: Increasing adaptive skills to enhance independence should remain a focus throughout the lifespan and should include personalised specific goals and teaching strategies.


R52: Additional developmental and educational support should be provided to individuals with CdLS to reach their maximum cognitive and educational potential, taking into account their specific cognitive impairments.


R53: Cognitive strengths and weaknesses of individuals with CdLS should be assessed in order to design educational and interventional strategies.


R54: To identify the cause of self-injurious behaviour in individuals with CdLS, medical assessment, specifically looking for sources of pain, should be followed by behavioural assessment of self-restraint then functional analysis.


R55: Treatment of self-injurious behaviour should include both medical and behavioural strategies.


R56: A clinical diagnosis of autism spectrum disorder (ASD) should be considered in all individuals with CdLS throughout life, taking into account atypical presentations.


R57: In addition to standardised ASD diagnostic tools, fine-grained observations should be carried out to accurately define the profile of social functioning in an individual with CdLS.


R58: ASD-specific interventions should be considered in all individuals with CdLS in combination with approaches that consider the broader social functioning profile of the syndrome.


R59: Interventions targeting problematic repetitive behaviour in individuals with CdLS should be sensitive to anxiety, sensory problems and social demands. These interventions should also consider environmental factors.


R60: Atypical presentation of anxiety and mood disorder should be considered when behaviour changes occur.


R61: As anxiety is common in individuals with CdLS during periods of environmental change/transitions, a planned program should be implemented.


R62: Treatment of anxiety and mood disorders in individuals with CdLS should be considered using psychosocial interventions (therapies) and pharmacotherapy (medication).


R63: When assessing communication, vision and hearing problems, speech impairments, intellectual disability, difficulties in social interaction and social anxiety should be considered. Video observations can be very useful.


R64: Developmentally appropriate communication strategies (such as speech therapy, augmented communication input) should be implemented within the first 18 months of life.

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).

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Last modified by Gerritjan Koekkoek on 2022/09/29 16:10
Created by Gerritjan Koekkoek on 2019/03/27 15:09

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                      


  

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