Author: Natasha Boskic

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2.1 Established Risk Conditions

Established Risk Conditions

As described in Module 1 established risk conditions are things that can occur that are known to cause problems in a child’s development. Some examples of these types of conditions are a lack of oxygen at birth, drinking alcohol during pregnancy and others.

Genetic Disorders

Genetic disorders are included in this group of established risks. Children with genetic disorders (see full Glossary) are unique and bring with them individual personalities, temperament, strengths and challenges. Often, children with similar conditions will have similar characteristics. We tend to notice some of these children because of physical characteristics. For example, we recognize in all children with Down Syndrome an upward slant of the eyes. However, a child with this diagnosis (see full Glossary) will have more in common and look more like their own family than another child with Down Syndrome.

This is why it is so important to keep in mind how every child is a combination of more than physical characteristics. When we look at the development of the whole child, we realize that each one of the child’s areas of development (see full Glossary) may be impacted in a different way.

Down Syndrome

Figure 1. Down Syndrome

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2.1 Children with Genetic Disorders: Down Syndrome

Children with Down’s Syndrome

Down syndrome is the most frequent genetic cause of mild to moderate intellectual disability. It is a chromosomal disorder (see full Glossary) caused by an error in the cell division shortly after conception. This error results in a third chromosome 21, or an extra part of chromosome 21, or “Trisomy 21” as shown in this picture (Fig. 1). The error in cell division can happen in different ways. These include the following: chromosomal nondisjunction (see full Glossary), translocation (see full Glossary) (Fig. 2) or mosaicism (see full Glossary) (See Chart on Fig. 3).

Figure 1. “Trisomy 21”

Figure 1 points at “pair” 21 with an extra or third chromosome. This is replicated in every cell of the body

Down Syndrome Translocation

Figure 2. Down Syndrome Translocation

Figure 2 shows how part of a chromosome added to pair 14 and re-arranged the genes

mosaicism

Figure 3. Mosaicism

Figure 3 shows another error in cell division for pair 21. This time, however, not all cells have the three chromosomes as in Trisomy 21 (see Figure 1)

Description

Children with Down Syndrome have different physical characteristics that include the following (see Fig. 4):

Typical characteristics include the following:

 

Figure 4. Physical characteristics of children with Down Syndrome

 

hypermobility

Figure 5. Hypermobility

Figure 5 points at the joint of the index finger in a child with Down’s Syndrome. The joint is curved, not straight

Health Conditions

  • Children with Down Syndrome are at higher risk than other children for infections, and other health problems including respiratory problems and leukemia.
  • It is common for children with Down Syndrome to experience sensory impairments, including vision impairments and/or with hearing loss
  • Some children with Down Syndrome (DS) may have congenital heart defects Congenital heart defects (see full Glossary)

Developmental Delays

Intervention options:

Children with Down Syndrome have different health and overall development needs. These needs require special attention in terms of the child’s education as he or she grows up. Different professionals or services may be required to support these needs. They include the following:

  • IDP, AIDP and SCDP, ASCD: Infants with Down’s syndrome in British Columbia, Canada will be first referred to the Infant Development Program, IDP, or Aboriginal Infant Development Program, AIDP. Children ages 3 and older will be referred to the Supported Child Development Program, SCDP, and Aboriginal Supported Child Development Program ASCD. Each one of these agencies will provide developmental consultation for children with Down Syndrome (or DS)1. Services range between birth and age 19 years. Each organization serves children at particular ages (please refer to each agency. IDP and AIDP: Birth to 3 years; SCD/ASCDP: 3 – 19 years);
  • Physiotherapist (PT): He or she will address decreased tone or floppiness in the large muscle or gross motor area;
  • Occupational therapist (OT): He or she will address decreased tone or floppiness in the small muscle or fine motor area, and/or in the muscles around the mouth or oral-motorarea;
  • Speech Language Therapist (SLP): He or she will address any difficulties with speech and language. This includes difficulties related to the muscles around the mouth or oral-motor area;
  • Mental health: These agencies will provide mental health support for older children and teens with DS. Other children and adults may pick on these because of their differences. These children  are more vulnerable to bullying and harassing;
  • Vision and hearing specialist: Children with DS often have vision and hearing challenges. It is important to check their vision and hearing on a regular basis;

Other specialist may include the following:

  1. Public Health Nurse (or Community Health Nurse)
  2. Pediatric Cardiologist
  3. Pediatric Ophtalmogist
  4. Vision Consultant
  5. Hearing Specialists
  6. Ear-nose-throat doctor
  7. Hearing/resource teacher
    • Assistive technologies and devices: These may be used to help children with DS develop certain cognitive, social and/or academic skills; Assistive technologies include amplification such as hearing aids, FM systems, cochlear implants
    • Alternative therapies: (see full Glossary) These may be used to enhance the child’s health and digestion

To learn about Down Syndrome in the middle childhood years, please visit the six to 12 part of this course:

1. Many online resources are available for parents and service providers.
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2.1 Children with Genetic Disorders: Fragile X Syndrome

Children with Fragile X Syndrome

Description

  • This syndrome1 is caused when the X chromosome suffers a mutation or change in what has been identified as the FMR1 gene;
  •  It is also known as Martin-Bell Syndrome;
  • This mutation may often cause mild to moderate cognitive delays, depending if it is a permutation (a mild change) or a full mutation (a major change) of the FMR1 gene;
  • Results from chromosomal analyses (see full Glossary) often find a partially broken (‘fragile’) site on some X chromosomes;
  • 1 in 4,000 males and 1 in 8,000 females may be diagnosed with Fragile X syndrome [1]

Children with Fragile X may have some or all of the following characteristics:

Physical:

  • Long narrow face with prominent forehead, nose, jaw or ears;
  • Macroorchildism (abnormally large testes);
  • Heart murmurs;
  • Strabismus, a disorder where both eyes do not line up in the same direction

Developmental [1]

Intervention Options

  • Infant and child development support through IDP/AIDP and/or SCD/ASCD –  Infants with Fragile X syndrome in British Columbia, Canada will be first referred to the Infant Development Program, IDP, or Aboriginal Infant Development Program, AIDP. Children ages 3 and older will be referred to the Supported Child Development Program, SCDP, and Aboriginal Supported Child Development Program ASCD. Consultants will provide support to parents and teachers with issues related to overall development. These agencies may also help parents and teachers get other services including health and counseling, among others.
  • Occupational therapy: Children with FXS may experience difficulties with motor coordination in daily activities, including feeding and dressing themselves.
  • Sensory Integration Therapy: Children with FXS may experience sensory processing difficulties.
  • Speech Language Therapist (SLP): Children with FXS may experience difficulties with speech and language development.
  • Behavioral Interventionist: Children with FXS may find it difficult to learn self- control, and to play and relate to others; they may also get easily distracted.
  • Mental health: Older children with FXS may need mental health services, as they may experience mental health difficulties due to being “different”.
  • Other interventions may be needed to support children with their vision and hearing, and with reading, math and writing at school.
  • Children with full FMR1 mutation who have moderate to severe delays may require language, sensory and motor assistive technologies(Fig. 1).
assistive technologies                                        Figure 1: Assistive technologies

 

To learn about Fragile X syndrome in the middle childhood years, please visit the six to 12 part of this course:

[1] Source: National Health Institute: http://ghr.nlm.nih.gov/condition/fragile-x-syndrome

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2.1 Children with Genetic Disorders: Other Genetic Disorders

Children with Other Genetic Disorders

In this section we describe four genetic disorders that have been identified in young children: Cystic fibrosis, Muscular Dystrophy, Klinefelter Syndrome, and Turner Syndrome. These syndromes affect not only the health and well-being of children, but also impact on their development.

Some parents wonder about prenatal testing for these and other disorders (for example, Cornelia De Lange, Cri-Du-Chat and many other syndromes). Prenatal testing for genetic or neural tube defects are available for women in BC.

Physicians and genetic counselors use a patient’s ancestry, family history, and medical history to determine which genetic testing is most likely to be of value.  These are some of the tests offered to find out about the most common genetic disorders:

Cystic Fibrosis1 is the most common fatal genetic disease affecting young Canadians. CF is a multi-organ disease that primarily affects the lungs and digestive system. It is estimated that one in every 3,600 children born in Canada has CF.  At the present time, approximately 3,500 children, adolescents, and adults with cystic fibrosis attend specialized cystic fibrosis clinics in North America.

Cystic fibrosis does not affect the child’s development.  However, the specific treatment and care requires extensive time that takes away from children’s regular play and school activities for preschool and school-age children. This is why children with cystic fibrosis may qualify for additional support once they enter Kindergarten.

Intervention Options

  • Newborn screening is available for early identification of cystic fibrosis
  • Treatment includes medications, airway treatments, specialized nutrition and transplantation at the end of stage of the disease
  • Early intervention in the form of monitoring, provides support for the child and family following up with developmental information, ages and stages, opportunities for play and interaction.

  • Muscular Distrophy

Muscular Dystrophy2 is the name for a group of neuromuscular (see full Glossary) disorders involving progressive weakness and wasting of the voluntary muscles that control body movement. As muscle tissue (see full Glossary) (Fig. 1) weakens and wastes away, it is replaced by fatty and connective tissue.  Forms of muscular dystrophy include Duchenne (the most common, with onset around 3 years old and more prevalent in boys), Facioscapulohumeral and Myotonic. Spinal muscular atrophy is the one usually identified in early infancy. Babies limbs are floppy and trunk is very weak. Children with this syndrome find it harder and harder to walk, and to do any movements.

body tissues

Figure 1. Different Types of Body Tissue

 

Intervention Options

  • Klinefelter Syndrome

Klinefelter syndrome3 is a term used to describe males who have an extra X chromosome in most of their cells. This syndrome mostly affects the boys’ physical, language and social development.

 Intervention Options

Children with Klinefelter Syndrome may require support for:

  • Turner Syndrome

Turner Syndrome (TS)4 is a condition that affects only females. It is caused when all or part of the second X chromosome in some or all of the cells of the body is missing. Physical characteristics may include small stature, puffy hands and feet, extra skin folds at the side and back of the neck, heart abnormalities, recurrent ear infections or hearing problems.

Description

Each genetic condition or syndrome has its own unique characteristics, behaviors and challenges. Intervention options need to address how the disability or disease manifests itself for the child.

Intervention Options5

A family who has a child with a genetic condition faces many challenges. The family may require genetic counseling (see full Glossary) to further explore the implications for the genetic condition. The family may also require family support or counseling to deal with the possible strong emotional reactions to the diagnosis. Families may also have concerns and be impacted by the high costs of medications, therapies, multiple treatments, etc. This is why families will require a team of interventionists involved in their lives and the life of the child.

1. Canadian Cystic Fibrosis Foundation http://www.cysticfibrosis.ca/en/index.php
2. Muscular Dystrophy Canada http://muscle.ca/
3. US National Library of Medicine/National Institutes of Health http://www.nlm.nih.gov/medlineplus/klinefelterssyndrome.html
4. Turner Syndrome Society of Canada http://www.nlm.nih.gov/medlineplus/turnersyndrome.html
5. NORD. National Organization for Rare Disorders http://www.rarediseases.org/
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2.1 Children with Pervasive Developmental Disorders (PDD)

Children with Pervasive Developmental Disorders (PDD)

The Early Intervention Dictionary describes “Pervasive developmental disorders” (PDD)1 as an “umbrella” term.

It is important for physicians and others in the medical and health professions to learn about the early signs of PDD.  This way they can work with parents and begin a referral process in order to assess and either rule out or confirm the PDD diagnosis between the ages of 2 and 3 years2, as opposed to waiting until the age of 5 years.

To learn about PDD in the middle childhood years, please visit the six to 12 part of this course.

1. Coleman, 2006 (p. 309)
2. Rhoades, Scarpa and Salley (2007)
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2.1 Children with Pervasive Developmental Disorders (PDD): Autism

Children with Autism / Autism Spectrum Disorder

  • The terms “Autism” and “Autism Spectrum Disorders (ASDs)” refer to “chronic” and “lifelong” conditions. This is in contrast with conditions that are short-term or that have periods of relapse or “cure.”
  • The term “spectrum” refers to the different layers or characteristics of “autism.”  Experts talk about different ways that these conditions manifest in children.

Description

  • Children autism spectrum disorder often present in infancy with low muscle tone and problems with transition movements.
  • Children with Autism Spectrum Disorder or ASD have difficulty learning to speak, which  include both verbal (talking with words)  and non-verbal (using signs and gestures to communicate) communication. Children with ASD also have difficulty understanding social cues and verbal and non-verbal communication; for example, smiles, frowns, and general facial or body tension.
  • Children with ASD have difficulty relating to others socially. They resist establishing eye contact with others and may not enjoy being touched or hugged by others, including their primary caregivers.  This difficulty may continue to be a problem for them as they enter school, and begin to relate to their peers.
  • Children with ASD may engage in repetitive and/or self-stimulatory (see full Glossary) behaviors. An example of a repetitive behavior would include flipping light switches on and off.  A child’s self-stimulatory behaviors might include rocking his or her head or entire body back and forth.
  • Children with ASD have difficulties with knowing how to take in images, sounds, smells, tastes or touch sensations, or to regulate their sensory system. They may be either under- or over-sensitive to any of the five senses. For instance, a child may be under-sensitive to the sense of hearing (and therefore appear deaf to others) or may be over-sensitive to the sense of hearing, and certain normal sounds end up aggravating him or her greatly (e.g. the sound of a vacuum cleaner or ambulance siren.)

Intervention Options

Intervention options are strategies, programs and resources that are available for parents and for service providers working with children with additional needs, and the professionals working with children and families. Intervention options are strategies, programs and resources that are available for parents and for service providers working with children with additional needs, and the professionals working with children and families. Parents and support workers are invited to check the Standards and Guidelines for the Assessment and Diagnosis of Young Children with Autism Spectrum Disorder in British Columbia

Applied Behavioural Analysis (ABA)

Interventionists working with children with ASD include the following:

  • Other intervention options include RDI (Relationship Development Intervention) which is a special program that aims at training parents to help their child develop healthy and meaningful relationships with his or her family and others. It is claimed that children with autism who receive RDI may become better able to communicate and interact with others as well as develop a theory of mind and perspective taking.

– Special diets: Sometimes parents of children with autism follow a restricted diet for their children. The claim is that these diets may help with children’s behavioral and learning difficulties. These diets include casein-free and gluten-free diets as well as receiving a multitude of vitamins (as part of a homeopathic or naturopathic program). To-date, these diets have not been scientifically proved to directly impact the child’s ehaviour and learning. Please refer instead to the educational and treatment options that Autism Society Canada provides.

– Music therapy: may help children with autism improve their cognitive, social and emotional skills as well as help them with their neurological functioning.

– Art and play therapy: as part of a holistic approach  that targets all developmental areas.

– Dance and movement therapy: This helps children develop a better understanding of their bodies, how they function in the world and some aspects of their hypo and/or hyper-sensitivity to certain environmental stimuli.

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2.1 Children with Pervasive Developmental Disorders (PDD): Asperger Syndrome

Children with Asperger Syndrome

Asperger syndrome is sometimes referred to as “high-functioning” autism. Children with Asperger syndrome do learn to speak and are able to develop typical language skills. However, like children with ASD, they do exhibit difficulties communicating with others. They basically need help with the pragmatic side of language.

Description

Children with Asperger syndrome have difficulty relating to others. Some of them appear to want to relate to others, but they simply do not know how.

They also have difficulty with their sensory system and may engage in self-stimulatory and repetitive behaviors.

Children with Asperger syndrome often have average or above average intelligence.

Intervention Options

Intervention options are strategies, programs and resources that are available for parents and for service providers working with children with additional needs, and the professionals working with children and families:

Interventionists working with children with Asperger syndrome include the following:

Other Intervention Options:

  • RDI: Relationship Development Intervention is a special program that aims at training parents to help children develop healthy and meaningful relationships with them and with others. It is claimed that children with autism who receive RDI may become better able to communicate and interact with others as well as develop a theory of mind and perspective taking.
  • Special diets: Some children with Asperger’s Syndrom are placed on a restricted diet, which some state may help with their behavioral and learning difficulties. This may include the following: casein-free diets, gluten-free diets, and vitamins. Casein is a substance found in dairy products like milk, butter and cheese; gluten is a substance found in products like bread, pasta and pizza; vitamins are components found in foods, like meats, fruits and vegetables (Fig. 1). These diets are part of a homeopathic or naturopathic program.

fruit and veggies

Figure 1. These foods are casein-free, gluten-free and rich in Vitamin A
  • Music therapy: Music may help children with autism improve their cognitive, social and emotional skills as well as help them with their neurological functioning.
  • Art and play therapy: This may be part of a holistic program that targets all developmental areas.
  • Dance and movement therapy: This can help some children develop a better understanding of their bodies and how they function in the world. It may also address some aspects of their hypo and/or hyper-sensitivity to certain environmental stimuli.

Children with Asperger may learn academic or behavioral skills well, but have difficulty with generalizations and or using skills in the appropriate context.  Some specific interventions may be used to teach children to apply or make a practical use of the skills they learn. This is called transference of skills.

Some of the difficulties these children have relate to not knowing how to understand the facial expressions or gestures of others.  This is called “non-verbal learning difficulties”, and some teaching strategies are available that help children relate better to other children and adults within their social context. Without help in this area, many children get themselves in trouble or miss out on fun stories, jokes and play activities they cannot grasp. An example of a useful program with free ideas and activities is Let’s face It, a program with resources for teachers, students and parents that includes curriculum material for children within the autism spectrum and that was created at the University of Victoria, in British Columbia.

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2.1 Children with Pervasive Developmental Disorders (PDD): Rett Disorder

Children with Rett Syndrome

Rett syndrome is a disorder that primarily affects girls. Like children with ASD, children with Rett syndrome experience difficulty learning how to talk and relate to others. They may also engage in self-stimulatory (see full Glossary) and/or repetitive behaviors, and may have difficulty regulating their sensory system.

Children with Rett syndrome often start life developing like any typical child. Sometime between the ages of 6 months and 2 years, the brains of children with Rett syndrome stop developing. When this happens, these children end up losing some of the skills they have learned. Brain development may resume, but after a period of non-growth. All lost skills will have to be re-taught.

Description

Children with Rett syndrome (Fig. 1) often have seizures and many of them keep wringing and unwringing their fingers. Children with Rett Syndrome require ongoing individualized attention from their parents and caregivers. Their needs are high in terms of their health, behavior and safety. These children also require frequent follow up with their regular feeding, dressing, changing and bathing routines. Parents and caregivers may experience exhaustion and, in some cases, despair when situations get to be overwhelming. Home support and ongoing intervention for parents and caregivers is essential to prevent parents from “losing” their sense of being in charge of their kids.

Girl with Rett syndrome
Figure 1. A girl with Rett Syndrome

Intervention Options

Intervention options are strategies, programs and resources that are available for parents and for service providers working with children with additional needs, and the professionals working with children and families:

Interventionists working with children with Rett syndrome include the following:

 

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2.1 Children with Pervasive Developmental Disorders (PDD): Childhood Disintegrative Disorder

Children with Childhood Disintegrative Disorder (CDC)

This disorder affects mostly boys. They start their lives developing typically, and learn new skills in the motor, language, cognitive and social and emotional domains. As early as their preschool years, and some of them during their toddler years, these children begin to lose some of the skills that they have learned. When this happens, they will have to re-learn many of these lost skills.

Description

Like children with ASD, Children with Childhood Disintegrative Disorder (CDC) experience difficulty learning how to talk and relate to others. They may also engage in self-stimulatory (see full Glossary) and/or repetitive behaviors, and may have difficulty regulating (see full Glossary) their sensory system.

Intervention Options

Intervention options are strategies, programs and resources that are available for parents and for service providers working with children with additional needs, and the professionals working with children and families:

Interventionists working with children with CDC include the following:

Other Intervention Options:

  • Music therapy: Music may help children improve their cognitive, social and emotional skills as well as help them with their neurological functioning.
  • Art and play therapy: This may be part of a holistic program that targets all developmental areas.
  • Dance and movement therapy: This can help some children develop a better understanding of their bodies and how they function in the world. It may also address some aspects of their hypo and/or hyper-sensitivity to certain environmental stimuli.
  • Medication: Some children with CDD may be given medication as a way to help control their repetitive movements, as well as anxiety and depression (Mayo clinic).
  • Special diets: Some children with CDD may be placed on special diets and may receive vitamin and mineral supplements, as part of a homeopathic or naturopathic treatment plan.
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2.1 Children with Pervasive Developmental Disorders (PDD): PDD-NOS

Children with PDD-NOS, or Pervasive Developmental Disorder – Not Otherwise Specified or PDD-NOS

Children with PDD-NOS exhibit some of the symptoms of ASD, to some degree or another, but do not fit into any of the previously mentioned categories of autism.

Description

Most of these children usually have average or above-average intelligence and they are usually diagnosed much later in life than children with standard ASD. Some children with autism may be diagnosed with Multiplex Syndrome, that is, a combination of autism and schizophrenia or autism and obsessive compulsive disorder. Intervention plans for these children need to be based on a functional analysis assessment. This assessment will focus on trying to understand the specific difficulties for children with multiplex syndrome, and particularly in the cognitive, social, emotional and behavioral areas.

Intervention options

Intervention options are strategies, programs and resources that are available for parents and for service providers working with children with additional needs, and the professionals working with children and families:

Interventionists working with children with PDD include the following:

1. More than 400 known intervention options for parents to explore from the Interactive Autism Network, Yale Child Stucy Center: http://www.iancommunity.org/cs/therapies_treatments/

http://www.handsinautism.org/lifewithasd.html

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