Mystery Diagnosis

As an Early Intervention Practitioner, I work with children with varying degrees of developmental delays. I have seen many children over the years, the vast majority of whom enter the Early Intervention Program with no diagnosis. As I write this article, I am remembering such a child. He in particular stands out in my memory. I will refer to him as Angel.

Angel was almost six-months old when I first met him. The youngest of four children. A beautiful baby boy with thick, curly black hair and a wide, catching smile. Something was not quite right, though, and his mother especially knew it. He looked completely healthy and full of life, but little things were not as they should have been. He still was not sleeping through the night, snored loudly, twitched in his sleep, would not attempt to hold his bottle, was not making any sounds, had poor eye contact, was not rolling or bearing weight on his arms, and showed little interest in toys.

Over the course of two years, Angel was seen by more than ten different specialists. Doctors’ opinions would often conflict. Results were frequently inconclusive. Blood work was lost. Although it was obvious that he was having seizures, it took several late night trips to the hospital and calls to 911 before any doctor would diagnose him with a seizure disorder and prescribe medication. In the meantime, he was not speaking and preferred to crawl rather than walk. He had difficulty managing solid foods and would often tire out so much from the mere action of chewing that he would fall asleep with food in his mouth. This was particularly alarming.

One day, I arrived at the family’s home and Mom greeted me at the door. Her son was about two-years old at the time . “I know what he has,” she said. “He has Angelman Syndrome. I saw it on Mystery Diagnosis.” Mom was sure of it and was determined to bring it up with her son’s doctors.
I had never heard of Angelman Syndrome before, so when I got home I looked it up. Sure enough, Angel seemed to be presenting with all of the symptoms. Seizures. Sleep disorder. Feeding problems. Motor delays. Speech impairment. Could his mother be correct? It seemed unlikely that this child’s mother, whose native language was not even English, could correctly diagnose Angel’s condition when none of her son’s doctors could. Or so I thought.

It would be over two years before Angel received the diagnosis of Angelman Syndrome, a genetic disorder first delineated by physician Harry Angelman in 1965. Angelman Syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother. It is characterized by sleep disorders, feeding problems, small head size, movement and balance disorders, speech impairment and seizures. There is currently no cure.

I have not seen Angel in quite some time, but I think about him often.

Therapeutic Listening

Listening and hearing are not one in the same. When we listen, we are using our entire body, not just our auditory system. According to Porges (1997), sound stimulation alone facilitates the process of listening and social engagement. 

The Listening Program® is a music listening therapy that provides engaging brain stimulation to improve performance in school, work and life. Some children experience problems processing auditory information from birth. In other instances, difficulties may develop later in life as a result of illness, injury or other challenges. The Listening Program® addresses auditory processing by gently providing psychoacoustically modified classical music designed to train the brain to process sound more efficiently.

The meaningful sound vibrations provided by The Listening Program® travel from the outer ear to the middle ear and then to the inner ear. The sound is converted to nerve impulses which move through the brainstem to the brain. The brain can establish new neural pathways and organize new synapses when presented with specific sensory sensation with appropriate frequency, intensity, and duration. Hearing is intimately connected with other sensory pathways within the brainstem and brain. We hear with our entire body and proper sound processing may lead to improvements in many areas, including:

• Learning
• Attention and Listening
• Communication
• Reading
• Social Engagement
• Sensory Processing
• Self Regulation
• Musical Ability
• Daily Living
• Behavior
• Brain Fitness.

 I highly recommend The Listening Program®.

Language Acquisition in Babies

     Research by Patricia Kuhl, co-director of the Institute for Brain and Learning Sciences at the University of Washington, emphasizes that the most productive period for language acquisition ends around age seven, after which ease of learning sharply declines.  Kuhl’s research has played a key role in demonstrating the importance of early exposure to language.  Implications of her work are especially meaningful for children with developmental delays and those in the field of Early Intervention.

     Are six-month old babies sophisticated enough to understand their world? Check out this short video and decide for yourself:  Patricia Kuhl: The Linguistic Genius of Babies.

     Here are some suggestions to give your child's language skills a boost:

                            

Social Emotional Development in Infants and Toddlers

     Social emotional development simply refers to a child's capacity to experience emotions and respond appropriately. By learning proper responses to emotional matters, children are more likely to lead healthy, more productive lives as adults. Some aspects of social emotional development include:

•  Self-confidence and self-esteem
• Attitudes
• Self-control and behavior
• Trust
• Empathy and compassion
• Cooperation and cooperative play.

     Examples of typical social emotional development include laughing and smiling at a mirror reflection (7 months); wanting to be near adults and needing reassurance that a caregiver is nearby (14 months); imitating grown-up activities (16 months); claiming ownership of personal things (mine!) (24 months), and; pretending to be a Mommy or Daddy (24 months).

      The reason for a child to be experiencing a delay in social emotional development is not always clear. Children with Autism especially have difficulty in this area of development. These children often avoid social interaction, prefer solitary play, and have difficulty interpreting body language and reading facial expressions. Children with Autism may say "ow" when they are being tickled or laugh when being scolded. For these children, proper social emotional responses do not develop as naturally as with typically developing children.

      Environmental risk factors have also been known to impact a child's social emotional development. Examples of these types of risk factors include: 

• Exposure to infection, alcohol or drugs prior to birth
• Poor nutrition
• Lead poisoning or exposure to other toxins
• Premature birth
• Poor prenatal care
• Life experiences.

      It is important to remember that a child's social emotional skills do not development in isolation. Delays in other areas of development, including communication, motor, and cognition, may impact social emotional development as well.

      Regardless of the reason for a social emotional delay, the earlier the intervention, the greater the likelihood that the delay can be successfully addressed.

Early Intervention: How Much is Enough?

There is an ongoing debate in the field of Early Intervention as to whether one hour a week of direct service is enough for children with or at risk for developmental delays. Although many factors must be considered when determining the frequency of services for a child, the single most important factor that will increase the likelihood of a child’s success is the extent to which family members follow-through with the strategies provided by the Early Intervention practitioners.  It is a common misconception that Early Intervention is a home-based therapy service, and while I recognize that in practice it can sometimes be just that, it is not designed as such. Early Intervention is designed to be a family training program.  It is designed to offer strategies, materials and resources that  family members can use to help them achieve the goals they set for their child.  It is much more than home-based therapy and done right can make a tremendous difference in the lives of each family member.   The following article, reprinted from The OARACLE: The Organization for Autism Research’s Monthly E-Newsletter, discusses how parent training programs can lead to lasting changes in toddlers with Autism.

Can One Hour per Week of Therapy Lead to Lasting Changes in Young Children with Autism?

While all professionals recommend early intervention for children diagnosed with autism, there is often a delay between diagnosis and receiving interventions. This can cause added stress for parents while processing the diagnosis. Many parents feel helpless knowing they need to obtain services but not yet being able to. In this study, researchers investigated training parents one hour a week for 10 sessions to deliver services to their children, ages 0-2. Past studies have focused on interventions for children over the age of two. As diagnosis age decreases, more research-based interventions are needed for young infants. Other research on parent-directed interventions have shown an increase in verbal skills and appropriate behavior. This study focused on parent-directed interventions for younger infants. Parents were trained using a manual based on the Denver Model and Pivotal Response Training. This intervention was designed using research-based techniques to increase language skills and relationship development. Eight families were recruited to participate in this study. Children in the study were under 36 months old and diagnosed with autism. Parents participated for 12 weeks: two weeks of baseline and 10 weeks of training to implement the strategies. Parents were encouraged to use the strategies at home during usual daily activities. During the first two sessions, researchers gathered baseline data on targeted behaviors and asked parents to complete checklists and assessments. Targeted behaviors were “number of spontaneous functional verbal utterances” and “number of imitative behaviors.” During the following weeks, researchers videotaped play between the child and parent and child and therapist. These videos were used in data collection on target behaviors in 10-minute intervals. Parents were also assessed in competency of using the interventions. Researchers found that most parents implemented the strategies at or above criterion by the sixth session. During baseline, all child participants showed little to no imitative behaviors or spontaneous verbal utterances while playing with parents or therapist. After intervention, all children increased imitative behaviors and spontaneous verbal utterances. Children maintained high levels of targeted behaviors during follow up three months later. Researchers determined this increase in targeted behaviors was due to parent training rather than child interactions with therapists as behaviors increased as parents became more skilled at the strategies, therapists had high skill levels in implementing the strategies from the beginning of the intervention.

This study suggests that short-term parent training programs, as little as one hour a week for 10 weeks, does lead to changes in young children with autism. This is an important finding suggesting that parents can be trained in strategies immediately following diagnosis and begin.


Vismara, L.A., Colombi, C., and Rogers, S.J. (2009). “Can one hour per week of therapy lead to lasting changes in young children with autism?” Autism, 13, 93-115

Toddlers, Toys and Tips

Do you need some tips on encouraging your child play to play with a particular toy? Would you like to teach your child a new skill but do not know where to start? Are you interested in novel uses for common toys? I would be happy to offer suggestions.  Just post the name of the toy and what you would like to accomplish and I will post some recommendations.

Resources for Spanish Speaking Families

The following resources on Autism Spectrum Disorder and developmental milestones are available in Spanish.

 

Books

1. Asperger’s: Que significa para mi?: Un manual dedicado a ayudadar a niños y jovenes con aspergers o autismo de alto funcionamiento (Asperger’s What Does It Mean to Me?: A Workbook Explaining Self Awareness and Life Lessons to the Child or Youth with High Functioning Autism or Asperger’s) by C. Faherty, K. Sicoli, R. Wayne Gilpin, and K. L. Simmons.
2. Comprender el autismo (Engaging Autism) by Stanley Greenspan and Serena Wieder.
3. El niño con necesidades especiales (The Special Needs Child) by Stanley Greenspan and Serena Wieder.
4. Esto es el sindrome de Asperger (This is Asperger Syndrome) by Elisa Gagnon and Brenda Smith Myles.
5. El Sindrome de Asperger: Una Guia para la Familia (Asperger’s Syndrome: A Guide for Parents and Professionals) by Tony Attwood.
6. Los trastornos del espectro de autismo de la A a la Z (Autism Spectrum Disorder from A to Z) by Barbara Doyle and Emily I. Land..
7. Hermano Tiene Autismo: Hablemos De Esto! (My Brother is Autistic: Let's Talk About It!) by Jennifer Moore-Mallinos.

Information on Developmental Milestones

 

‘For Parents By Parents’ Autism Page

 

Blanketivities

Looking for some fun and educational activities to do with your child on a rainy day? Grab a blanket! This simple, common household item can be the source of hours of entertainment and will leave your child asking for more. Here are some of my favorite blanket activities:

• Ring Around the Rosie: While standing sideways, hold the blanket with one hand and walk in a circle, singing Ring Around the Rosie.  Fall down to the words, “we all fall down” and similarly stand to the words, “they all stand up.”

• Swap: While standing forward, lift the blanket up high and take turns calling out the name of another person. The person whose name is called must cross under the blanket to the other side before it comes back down.

• Popcorn: Place the blanket on the floor and put soft toys or objects, such as balls, inflatables, stuffed animals or beanbags, into the center of the blanket. While facing forward, raise and lower the blanket, making a popping effect. For additional fun, hide the objects around the room and have your child find them as you call them out.

• See-Saw: Sit on opposite sides of the blanket and cooperatively pull the blanket back and forth while singing See Saw Marjorie Daw.  As an alternative, sing Row, Row, Row Your Boat.

• Swing: (Requires two adults.) Place the blanket on the floor. Have one child at a time sit or lay in the middle of the blanket. With each adult tightly gripping opposite ends of the blanket, lift the blanket slightly off of the floor and gently swing it back and forth to the tune of Rock a Bye Baby.

• Turtle: Place a ball or other object to represent turtle food on the opposite side of the room from the blanket. Everyone hides under the blanket on hands and knees. The blanket now becomes the turtle’s shell. The goal is for the turtle to move across the room to get the food without losing its shell.  

• Let’s Pretend: Drape the blanket over the back of two or more chairs, or over a table. Play peek-a-boo with younger children. For older children, pretend it is a house or tent. Provide your child with some additional props, such as a tea set, plastic food, pillow, or doll.

• Roller-ball: Place two or more different colored inflatable or soft balls onto the blanket. While standing or sitting, slowly move the blanket up and down in a wave motion. Each person must try to keep his/her color ball from rolling off of the blanket.

• Burrito: Place the blanket on the floor. Have one child lay on the edge of the blanket. The adult rolls the child up in the blanket, like a burrito, being sure not to cover the child’s face. The goal is for the child to either roll or wiggle out of the blanket.   

Blanket activities offer many benefits and address a wide-range of developmental skills, including:

• Attending and following directions
• Motor coordination
• Pretend play
• Social interaction
• Communication
• Perception
• Cooperative play, turn-taking and sharing.

While not every child will enjoy every activity, most children will enjoy some of them, so why not give it a try?

Children’s Songs and Nursery Rhymes

Children’s songs and nursery rhymes help children enhance their skills in a number of areas, including vocal and motor imitation, social-emotional development, information processing, and application of knowledge. In fact, evidence suggests that nursery rhymes and songs help children build early literacy skills by teaching rhyming, expanding vocabulary, and developing memory.

Teaching children songs and rhymes is an important aspect of early childhood development and can be lots of fun for children and parents alike. For those parents whose children love songs and nursery rhymes, or for those that would like their children to do so, props can be a fun and motivating addition.  The next time you stop in your local craft or dollar store, why not keep a look out for some of these fun props?

• Plastic spiders (Itsy Bitsy Spider)
• Large (5-6”) foam star cut-outs (Twinkle Twinkle Little Star)
• Plastic or wooden apples (Way Up High in the Apple Tree)
• Rubber ducks (Five Little Ducks)
• Assorted toy farm animals (Old MacDonald)

What is Screening and Assessment?

Screening and assessment tools are used to determine if a child's skills are developing appropriately or whether there is evidence of a developmental delay. Screening and assessment do not lead to a diagnosis but may help professionals determine if a child may be at risk for a developmental disorder and if further evaluation is warranted. Screening generally differs from assessment in regard to its indepthness. Screening and assessment tools are an important initial step in determining whether a child may need extra attention so that intervention may begin as early as possible.


According to the U.S. Department of Health and Human Services, "when a developmental delay is not recognized early, children must wait to get the help they need. This can make it hard for them to learn when they start school. In the United States, 17 percent of children have a developmental or behavioral disability such as autism, intellectual disability (also known as mental retardation) or Attention-Deficit/Hyperactivity Disorder (ADHD). In addition, many children have delays in language or other areas. But, less than half of children with problems are identified before starting school. During this time, the child could have received help for these problems and may even have entered school more ready to learn." (http://www.cdc.gov/ncbddd/actearly/pdf/parents_pdfs/DevelopmentalScreening.pdf)