Wednesday 21 February 2018

Dear Dr Nina: My daughter has been diagnosed with autism. Could it be wrong?

Photo posed
Photo posed

Nina Byrnes

Q. My daughter, who is three, has just been diagnosed with autism, and I am finding it very hard to accept the diagnosis. She is affectionate, makes eye contact and loves Montessori school, and her teachers. She also loves playing with other kids and her cousins. The only thing that I ever noticed about her was the delay in her speech. Is there a chance that this diagnosis is incorrect? Can children with autism display all the characteristics I have described above about my daughter? My family think I am in denial, and maybe I am. I would love a bit more information on the range of behaviours you have seen in children with autism.

Dr Nina replies: The timing and presentation of symptoms of autism can vary greatly from child to child. Some children show signs very early, whereas in others it may be more delayed. Children may appear to develop normally initially and then regress, often after 24 months of age.

Autism is not just one condition but a range of disorders referred to as the Autistic Spectrum. There are specific diagnostic criteria that help define autism. When someone is diagnosed with autism they may exhibit some or all of these in varying degrees of severity. During the diagnostic process a child will be assessed along a range of verbal and social interaction and communication.

One condition aligned with the autistic spectrum relates specifically to communication. It is the Social (Pragmatic) Communication Disorder. Criteria include persistent difficulties in the social use of verbal and non-verbal communication. This includes: deficits in using communication for social purposes, impairment of the ability to change communication to match context or the listeners needs, difficulty following rules of communication such as taking turns and difficulty understanding what is not explicitly said such as metaphors, idioms or humour. These deficits then result in difficulty effectively communicating, participating socially, achieving academically or later in occupational performance.

Communication limitations often start in early development, but they may only become more obvious once a person has developed to a stage where more advanced communication skills are needed.

Autism Spectrum Disorder itself is defined as "persistent deficits in social communication and social interaction across multiple contexts", DSM IV. Deficits here may include difficulty in social interaction such as those that occur in normal conversation, difficulty in non-verbal communication such as using and interpreting eye contact and body language, and lack of appropriate facial expression with deficits in forming and maintaining normal relationships or adjusting behaviour to different situations. As you mentioned, others on the autistic spectrum may have deficits in behaviour such as manifesting repetitive behaviour or inflexibility or ability to adapt, preferring ritualised routines and patterns. They may also have hypo or hypersensitivity to sensory aspects of their environment.

It seems like your daughter may have been diagnosed more as Social (Pragmatic) Communication Disorder. Assessment in those less than three years usually takes place as part of an Early Intervention Assessment.

If you have any concerns or would like a second opinion, then you should seek one out. It is important that you feel confident in the diagnosis given.

Remember that ultimately the goal of diagnosis is to put in place the help and support that you and your child need. Autism diagnosis and assessment should be carried out by those with experience and training in the field. Your GP can certainly guide you towards where you might seek out this advice, but it is not part of our training to make the diagnosis.

Q. I have sebaceous cysts. Can they be dangerous? Will they go away by themselves?

Dr Nina replies: Skin has two main layers. Our bodies are also covered in a tough protective layer of protein called keratin and fine hair. The root of these hairs lies in the deeper layer of skin and they are supplied with oil called sebum by small glands called sebaceous glands. In normal skin, sebum is produced and moves along the hair to the surface of the skin. The sebaceous glands can become blocked by plugs of keratin and sebum.  

Lumps that seem to appear under the skin are often referred to as sebaceous cysts, but this can be a misnomer as the majority of these are either epidermoid or pilar cysts. Epidermoid cysts form from the cells that normally produce the outer layer of skin, while pilar cysts form in the base of a hair follicle. There can be a familial tendency towards these, but most occur for no particular reason.

Both these cysts can form smooth lumps, varying in size from that of a small pea to several centimetres in diameter. Cysts often have a small dot or punctum on the surface. If you squeeze them, they extrude toothpaste-like substance that often smells quite cheesy.

This substance is boggy keratin, which normally is one of the building blocks of hair and skin cells.

Although the size may be alarming, epidermoid and pilar cysts are benign lumps and no treatment is required unless they are causing pain or are cosmetically undesirable. Squeezing them may release the keratin filling, but the capsule remains, and so these can refill.

The best way to deal with an unwanted cyst is for the cyst and capsule to be removed together. This is a straightforward procedure that is done under local anaesthetic. There are very few if any complications apart from a scar.

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