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Fragile X: Parental concern an important indicator

''Mother knows best'' - a familiar phrase and the basis of this week's blog exploring the importance of taking parental concern into consideration during a consultation when presented with developmental delay, an identifier for Fragile X syndrome.

  Helen Tozer is the parent of Josiah, a six year old boy with Fragile X syndrome. With a background in early childhood education, she knew that Josiah was not meeting his developmental milestones from a very young age. She first raised her concerns with a GP in Hong Kong when Josiah was one month old but her concerns were brushed aside and she was told that he was fine. After a move to the USA and escalating anxiety about Josiah’s development, Helen become increasingly proactive in finding a health professional who would take her concerns seriously and act on them accordingly.

  “At first, I felt like I needed to justify my concerns and convince the doctor that I was right about my son’’ she says. “The doctor eventually agreed with me which started a diagnostic treadmill that, after endless inconclusive neurological and metabolic testing, finally resulted in genetic testing and the diagnosis of Fragile X syndrome when Josiah was 18 months old.”

 When presenting on the topic “What GPs need to know about intellectual disability”, Professor Stewart Einfeld, Centre for Disability Research and Policy at the University of Sydney, said that parental concern is enough to indicate further testing. And according to Associate Professor Natalie Silove, consultant paediatrician and Head of Child Development Unit, The Children’s Hospital at Westmead, research shows that parents have an 80% chance of being correct. In other words, if parents express concern about their child’s development then in 80% of cases, assessment will confirm their instincts are right.

  Professor Einfeld believes that a healthcare professional’s threshold for responding to parental concern should be low. When faced with parents who are concerned about their child’s development, current best practice for GPs is to take notice and listen, and if suitably trained, conduct a baseline developmental screening tool such as the Parents’ Evaluation of Developmental Status (PEDS) or the Ages and Stages Questionnaire. Alternatively, a GP should refer to a paediatrician or community health centre.

  “It is important to take action when a parent expresses concern, and the use of a screening tool helps by doing something tangible to show the parent their child’s developmental progress relative to other children of the same age,” says Professor Silove. Follow-up is also essential, even if the child is not showing signs of developmental delay as this will provide further reassurance to the parents.

 Helen says that she and her husband were told multiple times by both health professionals and other parents that boys tend to be more delayed than girls. “Not only is this untrue but being continually told that boys are slower to develop is disempowering and undermines a parent’s level of concern’’.

  It is very important that health professionals do not provide false reassurance to parents who do express concern about their child’s development. This can make parents very angry and feel let down, particularly when they are aware that opportunities for early intervention may have been missed.

 “If GPs are not trained to conduct developmental screening or are not sure how to manage the situation, take action and refer on. There is nothing lost by providing parents with access to assessment,” says Professor Einfeld.

 Thankfully, there are changes afoot to help accelerate the early identification of development delay, specifically in NSW where the current system for developmental surveillance is run by child and family nurses using the PEDS, part of the infamous ‘blue book’. Currently, only 30% of parents visit the child and family nurse after the child turns one, so opportunities for early identification are less frequent. Professor Valsamma Eapen, chair, Infant Child and Adolescent Psychiatry at UNSW, is conducting a research project with NSW Health and Liverpool Hospital in South West Sydney looking at using the opportunistic contact with a health professional vaccination visits to facilitate early identification of developmental problems.

 Professor Eapen’s trial using the Watch Me Grow webapp is targeting parents who are visiting the GP as part of the routine 12 or 18 month vaccination schedule. While in the waiting room, parents are given an ipad to access the webapp to answer 17 questions – 7 relating to general development and 10 specific to autism. Once completed, and before the appointment begins, the results are analysed and any parent-reported concerns along with recommendations such as refer for further assessment, early intervention and so on are then easily communicated to the GP.

 The parent will also receive an email with feedback on the results along with anticipatory guidance linked to the US-based Center for Disease Control and Prevention (CDC) Learn the signs. Act Early program which provides a summary of milestones for children aged from 2 months – 5 years, and provides the tools for parents to track their child’s development and act early on any concerns. This is in keeping with the recent changes made by NSW Health regarding developmental surveillance in the ‘blue book’ where the PEDS has been replaced by Learn the Signs. Act Early resources. Professor Eapen is hoping to receive funding for a larger, multi-site trial to continue validating the program.

 When asked if Helen had any advice for other parents who are concerned about their child’s development, she says to trust your instincts and don’t give up. She acknowledges that not everyone is an “instinctive advocate” but urges parents to keep searching for a health professional who acknowledges that the concerns are valid and is prepared to work with you to confirm or deny them.


Helen, with her son Josiah


To learn more about Fragile X syndrome and how you can better manage this condition, or to access a valuable range of free resources for you and your patients, click here.

Jow KosterichKatrina Weir, Fragile X Association of Australia
Katrina joined Fragile X Association of Australia in June 2014 and works part-time to educate healthcare professionals, including GPs, about Fragile X syndrome and Fragile X-associated Disorders. Prior to joining the association, Katrina worked in health communications including almost a decade in her own public relations company, Reed Weir Communications. She is currently completing a Masters of Health Management at UNSW and is a volunteer Board member and treasurer of children’s charity, Healthy Kids Association.