He had three wives and I have 21 full and half siblings. Drayna, who worked at the National Institute on Deafness and Other Communication Disorders, already had a longstanding interest in the inheritance of stuttering. His uncle and elder brother stuttered and his twin sons did so as children. He mentioned the email to current National Institutes of Health director Francis Collins who was director of the National Human Genome Research Institute at that time , who encouraged him to check it out, so he booked a ticket to Africa.
He has also travelled to Pakistan, where the intermarriage of cousins can reveal gene variants linked to genetic disorders in any resulting children. Even with those families, finding the genes was slow going. Oddly, none of the genes that Drayna identified have an obvious connection to speech. Rather, they all are involved in sending cellular materials to the waste-recycling compartment called the lysosome.
Recording the ultrasonic calls of pups, the team observed patterns similar to human stuttering. Astrocytes do big jobs that are essential for nerve activity : providing the nerves with fuel, for example, and collecting wastes. Researchers created mice with a mutation in a gene that, in people, is linked to stuttering. On the other hand, Maguire has long doubted that mutations in such important genes, used in nearly all cells, could cause defects only in the corpus callosum, and only in speech. He also finds it difficult to compare mouse squeaks to human speech.
Scientists are sure there are more stuttering genes to find. Drayna has retired, but Morgan and collaborators are initiating a large-scale study in the hopes of identifying additional genetic contributors in more than 10, people.
Maguire has been tackling stuttering from a very different angle: investigating the role of dopamine, a key signalling molecule in the brain. Dopamine can ramp up or down the activity of neurons, depending on the brain location and the nerve receptors it sticks to. There are five different dopamine receptors named D1, D2, and so on that pick up the signal and respond.
During the s, Maguire and colleagues were among the first to use a certain kind of brain scan, positron emission tomography, on people who stutter. Accessed May 4, Childhood-onset fluency disorder stuttering. Arlington, Va. FAQ: Stuttering facts and information. Stuttering Foundation of America. Carter J, et al.
Etiology of speech and language disorders in children. Evaluation and treatment of speech and language disorders in children. Perez H, et al. Stuttering: Clinical and research update. Canadian Family Physician. Gabbard GO, ed. Communication disorders. As the brain continues to develop, some of these problems resolve or the brain can compensate, which is why many children "grow out" of stammering.
Genes are also thought to have a role. Around 2 in 3 people who stammer have a family history of stammering, which suggests the genes a child inherits from their parents might make them more likely to develop a stammer. You should get advice if you have any concerns about your child's speech or language development. Treatment for stammering is often successful in pre-school age children, so it's important to be referred to a specialist as soon as possible.
Talk to a GP or health visitor about your concerns. If necessary, they may refer your child to a speech and language therapist SLT for an assessment. In many areas, you can phone children's speech and language services directly and refer your child yourself. Stamma The British Stammering Association has more information and support for people who stammer and parents of stammering children.
You can call the helpline on from Monday to Friday 10am to midday and 6pm to 8pm to find out about the services available in your area. What Is Stuttering? This might make them: repeat certain syllables, words, or phrases prolong them stop, making no sound for certain sounds and syllables Stuttering is a form of dysfluency dis-FLOO-en-see , an interruption in the flow of speech.
What Causes Stuttering? What Are the Signs of Stuttering? When to Get Help If your child is 5 years old and still stuttering, talk to your doctor or a speech-language therapist. Check with a speech therapist if your child: tries to avoid situations that require talking changes a word for fear of stuttering has facial or body movements along with the stuttering repeats whole words and phrases often and consistently repeats sounds and syllables more often has speech that sounds very strained Also talk to the therapist if: you notice increased facial tension or tightness in your child's speech muscles you notice vocal tension that causes rising pitch or loudness you have other concerns about your child's speech Most schools will offer testing and appropriate therapy if stuttering lasts for 6 months or more.
How Can Parents Help? Try these steps to help your child: Don't require your child to speak precisely or correctly at all times. Allow talking to be fun and enjoyable. Use family meals as a conversation time. Avoid distractions such as radio or TV. Avoid corrections or criticisms such as "slow down," "take your time," or "take a deep breath. Avoid having your child speak or read aloud when uncomfortable or when the stuttering increases.
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